Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population.
Women with certain mutations in their BRCA1 or BRCA2 genes are at increased risk for breast cancer. However, if a woman who comes from a BRCA family tests negative for her family-specific BRCA mutation, her risk for breast cancer is considered to be the same as someone in the general population, according to the National Cancer Institute. This study, however, suggests that it may not always be true.
‘We found that women who test negative for family-specific BRCA2 mutations have more than four times the risk for developing breast cancer than the general population,’ said Gareth R. Evans, M.B.B.S., M.D., M.R.C.P., F.R.C.P., honorary professor of medical genetics and cancer epidemiology at the Manchester Academic Health Science Center at the University of Manchester in the United Kingdom. ‘We also found that any increased risk for breast cancer is largely limited to BRCA2 families with strong family history and other genetic factors.
‘It is likely that these women inherit genetic factors other than BRCA-related genes that increase their breast cancer risk,’ he explained. ‘About 77 single nucleotide polymorphisms [SNPs—genetic variations that can help track the inheritance of disease genes within families] are linked to breast cancer risk. Identification of additional SNPs is necessary to understand why some of the BRCA-negative women from BRCA families are at higher risk.’
The authors note that specialists should use caution when stating that a woman’s breast cancer risk is the same as that of the general population following a negative test, because it may not be true for some women who come from BRCA2 families with a strong family history.
Evans and colleagues used data from the M6-Inherited Cancer in England study, which has screened families of individuals with breast and/or ovarian cancer for mutations in BRCA1 and 2 since 1996. Details on affected individuals, and all tested and untested relatives, were entered into a Filemaker Pro-7 database. From 807 BRCA families, the researchers identified 49 women who tested negative for the family-specific BRCA mutation, but subsequently developed breast cancer. The researchers called these women ‘phenocopies.’
Of the 49 phenocopies identified, 22 were among 279 women who tested negative from BRCA1 families, and 27 were among 251 women who tested negative from BRCA2 families. When the researchers stratified the phenocopies based on their age (30-39, 40-49, 50-59, and 69-80), they found that in each age range there were about twice as many cases of breast cancer as would have been expected from the general population.
Next, to conduct risk analyses, Evans and colleagues calculated the ‘observed versus expected ratio’ (O/E), a ratio of observed risk for breast cancer in BRCA-negative women from BRCA families, versus the risk expected for any woman in the general population.
They found the O/E for phenocopies from BRCA1 families was not substantially higher than that of the general population; however, the O/E for phenocopies from BRCA2 families was 4.57, leading them to conclude that the more than fourfold increased risk for breast cancer among BRCA-negative women is largely limited to BRCA-negative women from BRCA2 families.
When the researchers considered the date of predictive testing (the date on which BRCA testing was done for an individual) instead of the date of family ascertainment (the date the first family member of the individual was referred to genetic service), O/E dropped from 4.57 to 2.01, ‘because there is less follow-up in the predictive test group from time of testing and we may be unaware of breast cancers that have occurred in the near past,’ explained Evans.
American Association for Cancer Research
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A team of researchers has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. Dopamine is the neurotransmitter that sends messages to the part of the brain that controls movement and co-ordination. Their discoveries include identification of a molecule that protects neurons from pesticide damage.
‘For the first time, we have used human stem cells derived from Parkinson’s disease patients to show that a genetic mutation combined with exposure to pesticides creates a ‘double hit’ scenario, producing free radicals in neurons that disable specific molecular pathways that cause nerve-cell death,’ says Stuart Lipton, M.D., Ph.D., professor and director of Sanford-Burnham’s Del E. Webb Center for Neuroscience, Aging, and Stem Cell Research and senior author of the study.
Until now, the link between pesticides and Parkinson’s disease was based mainly on animal studies and epidemiological research that demonstrated an increased risk of disease among farmers, rural populations, and others exposed to agricultural chemicals.
In the new study, Lipton, along with Rajesh Ambasudhan, Ph.D., research assistant professor in the Del E. Webb Center, and Rudolf Jaenisch, M.D., founding member of Whitehead Institute for Biomedical Research and professor of biology at the Massachusetts Institute of Technology (MIT), used skin cells from Parkinson’s patients that had a mutation in the gene encoding a protein called alpha-synuclein. Alpha-synuclein is the primary protein found in Lewy bodies—protein clumps that are the pathological hallmark of Parkinson’s disease.
Using patient skin cells, the researchers created human induced pluripotent stem cells (hiPSCs) containing the mutation, and then ‘corrected’ the alpha-synuclein mutation in other cells. Next, they reprogrammed all of these cells to become the specific type of nerve cell that is damaged in Parkinson’s disease, called A9 dopamine-containing neurons—thus creating two sets of neurons—identical in every respect except for the alpha-synuclein mutation.
‘Exposing both normal and mutant neurons to pesticides—including paraquat, maneb, or rotenone—created excessive free radicals in cells with the mutation, causing damage to dopamine-containing neurons that led to cell death,’ said Frank Soldner, M.D., research scientist in Jaenisch’s lab and co-author of the study.
‘In fact, we observed the detrimental effects of these pesticides with short exposures to doses well below EPA-accepted levels,’ said Scott Ryan, Ph.D., researcher in the Del E. Webb Center and lead author of the paper.
Having access to genetically matched neurons with the exception of a single mutation simplified the interpretation of the genetic contribution to pesticide-induced neuronal death. In this case, the researchers were able to pinpoint how cells with the mutation, when exposed to pesticides, disrupt a key mitochondrial pathway—called MEF2C-PGC1alpha—that normally protects neurons that contain dopamine. The free radicals attacked the MEF2C protein, leading to the loss of function of this pathway that would otherwise have protected the nerve cells from the pesticides.
‘Once we understood the pathway and the molecules that were altered by the pesticides, we used high-throughput screening to identify molecules that could inhibit the effect of free radicals on the pathway,’ said Ambasudhan. ‘One molecule we identified was isoxazole, which protected mutant neurons from cell death induced by the tested pesticides. Since several FDA-approved drugs contain derivatives of isoxazole, our findings may have potential clinical implications for repurposing these drugs to treat Parkinson’s.’
Sanford-Burnham Medical Research Institution
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Scientists are a step closer to understanding how some of the brain’s 100 billion nerve cells co-ordinate their communication.
The University of Bristol research team investigated some of the chemical processes that underpin how brain cells co-ordinate their communication. Defects in this communication are associated with disorders such as epilepsy, autism and schizophrenia, and therefore these findings could lead to the development of novel neurological therapies.
Neurons in the brain communicate with each other using chemicals called neurotransmitters. This release of neurotransmitter from neurons is tightly controlled by many different proteins inside the neuron. These proteins interact with each other to ensure that neurotransmitter is only released when necessary. Although the mechanisms that control this release have been extensively studied, the processes that co-ordinate how and when the component proteins interact is not fully understood.
The School of Biochemistry researchers have now discovered that one of these proteins called ‘RIM1α’ is modified by a small protein named ‘SUMO’ which attaches to a specific region in RIM1α. This process acts as a ‘molecular switch’ which is required for normal neurotransmitter release.
Jeremy Henley, Professor of Molecular Neuroscience in the University’s Faculty of Medical and Veterinary Sciences and the study’s lead author, said: ‘These findings are important as they show that SUMO modification plays a vital and previously unsuspected role in normal brain function.’
Bristol University
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Dr. Hanna Mikkola and researchers at UCLA’s Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have identified a specific type of cell and a related cell communication pathway that are key to the successful growth of a healthy placenta. The findings could greatly bolster our knowledge about the potential causes of complications during pregnancy.
Specifically, the findings could help scientists clarify the particular order in which progenitor cells grow in the placenta, which would allow researchers to track foetal development and identify complications. Progenitor cells are cells that develop into other cells and that initiate growth of the placenta.
The placenta is the organ that forms inside the uterus during pregnancy and enables oxygen and nutrients to reach the foetus, but little is understood about the biological mechanisms and cellular processes responsible for this interface. Studying mouse models, Mikkola and her colleagues tracked individual cells in the placenta to determine which cells and which cell communication routes, or signalling pathways, were responsible for the healthy development of the placenta.
The UCLA team was the first to identify the cells that form the placenta: Epcamhi labyrinth trophoblast progenitors, or LaTP cells, can become the various cells necessary to form a specific tissue, in this case the placenta.
Mikkola and her colleagues also found a signalling pathway that consists of hepatocyte growth factor and its receptor, c-Met. The researchers found that this signalling pathway was required for the placenta to keep making LaTP cells. Production of LaTP cells, in turn, continues the production of the different cells needed to maintain the growth and health of the placenta while the foetus is growing. Placental health enables healthy transmission of oxygen and nutrients through the exchange of blood between the foetus and the mother. In the mice, when c-Met signalling stopped, foetal growth slowed, the liver did not develop fully and it produced fewer blood cells, and the foetus died.
‘Identifying this novel c-Met–dependent multipotent labyrinth trophoblast progenitor is a landmark that may help us understand pregnancy complications that are caused by defective placental exchange, such as foetal growth restriction,’ Mikkola said.
University of California – Los Angeles
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It has been estimated that 3 to 4 million people are infected with hepatitis C virus (HCV) each year with the risk of developing liver cirrhosis and/or liver cancer. More than 350,000 people die each year from HCV-related conditions. With earlier detection and diagnosis, patients have a hope of receiving timely treatment and care for improved management of the condition. MP Biomedicals recently obtained the CE Marking for its patented multiparameter HCV test, the Multisure HCV antibody test. This test is intended for the detection and differentiation of Hepatitis C antibodies that may be present in patients with acute or chronic HCV infection. This innovative test is based on the patented reverse-flow technology, giving greater sensitivity and stronger visual signals. Multisure HCV uses human whole blood, plasma or serum. The test is fast and can help differentiate HCV antibodies against both structural and non-structural proteins across six genotypes.
www.mpbio.com
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People from around the country and the world turn to Johan Van Hove, MD, PhD, for advice on a rare metabolic disease known as NKH, which can disrupt the body in devastating and even deadly ways. Now, Van Hove, a University of Colorado medical school professor, has identified a new disease related to NKH, a finding that resolves previously baffling cases including the death of a Colorado girl.
‘This opens the door,’ Van Hove said. ‘I am hopeful that it will eventually lead to major advances in dealing with these diseases.’ The research team led by Van Hove, including scientists from the United States and five other countries, calls the new disease variant NKH.
The discovery is part of the new wave of personalised medicine being pioneered at CU and other institutions, in which researchers and doctors delve into the human genome to determine what is causing disease and use the information to try to fix the problem.
Van Hove has been on the trail of NKH for 22 years. Much of the funding for his research comes from families and others who have encountered the disease.
NKH, short for non-ketotic hyperglycinaemia, occurs in about one in 60,000 births. It involves the amino acid glycine, a building block for many functions including movement and brain activity. When a genetic mutation prevents the body from breaking down excess glycine, it can cause brain problems including severe epilepsy and impaired intellectual development.
Scientists know the symptoms of NKH and also the genes that, when they malfunction, cause it. But a few patients worldwide had symptoms or glycine test results that were similar but did not quite match up.
One of those patients was a Colorado girl. She seemed fine until she was six months old. Then she began to lose muscle tone. She lost some control of her head movements. Seizures came next, along with a range of muscle twitches. By eight she lost her ability to walk. At the end, she spent most of her time curled in the foetal position.
Several years ago, at age 11, she died.
Researchers kept her genetic material, as they did with other patients who seemed to fall outside the NKH symptoms or who had molecular test results that were outside of the NKH pattern. The patients, some of whom are living, were scattered around the globe, in Australia, Lebanon, Canada and other countries as well as in the United States.
By looking into the genomes of this group of 11, Van Hove and his colleagues found that eight shared a genetic glitch different than the ones associated with NKH.
In other words, ‘this is a new disease,’ said Van Hove, who practices at Children’s Hospital Colorado.
More testing is likely to reveal more such patients and, he said, may allow development of a new drug to make life better for patients with variant NKH.
EurekAlert
For the first time, large-scale information on the biochemical makeup of small interfering RNA (siRNA) molecules is available publicly. These molecules are used in research to help scientists better understand how genes function in disease. Making these data accessible to researchers worldwide increases the potential of finding new treatments for patients.
NIH’s National Center for Advancing Translational Sciences (NCATS) collaborated with Life Technologies Corporation of Carlsbad, Calif., which owns the siRNA information, to make it available to all researchers.
RNA interference(RNAi), a cellular process that can stop specific proteins from being coded by silencing the genes that produce them.
The siRNA molecules, which can selectively inhibit the activity of genes, are used in RNA interference (RNAi) research. RNAi is a natural process that cells use to control the activity of specific genes. Its discovery led to the 2006 Nobel Prize in Physiology or Medicine.
Last month, a team of NIH scientists, led by Richard Youle, Ph.D., at the National Institute of Neurological Disorders and Stroke (NINDS), and Scott Martin, Ph.D., at NCATS, used RNAi to find genes that linked to Parkinson’s disease, a devastating movement disorder. The new genes may represent new starting points for developing treatments.
Scientists have harnessed the power of RNAi to study the function of many individual genes by reducing their activity levels, or silencing them. This process enables researchers to identify genes and molecules that are linked to particular diseases. To do this, researchers use siRNAs, which are RNA molecules that have a complementary chemical makeup, or sequence, to that of a targeted gene. While the gene is silenced, researchers look for changes in cell functions to gain insights about what it normally does. By silencing genes in the cell one at a time, scientists can explore and understand their complex relation to other genes in the context of disease.
Until now, a major limitation in the scientific community’s use of RNAi data has been the lack of a publicly available dataset, along with siRNA sequences directed against every human gene. Historically, providers have not allowed publishing of proprietary siRNA sequence information. To address this problem, NCATS and Life Technologies are providing all researchers with access to siRNA data from Life Technologies’ Silencer Select siRNA library, which includes 65,000 siRNA sequences targeting more than 20,000 human genes. Simultaneously, NCATS is releasing complementary data on the effects of each siRNA molecule on biological functions. All of this information is available to the public free-of-charge through NIH’s public database PubChem.
‘Producing and releasing these data demonstrate NCATS’ commitment to speeding the translational process for all diseases,’ said NCATS Director Christopher P. Austin, M.D. ‘The Human Genome Project showed that public data release is critical to scientific progress. Similarly, I believe that making RNAi data publicly available will revolutionise the study of biology and medicine.’
Experts from the NIH RNAi initiative, administered by NCATS’ Division of Pre-Clinical Innovation, conduct screens for NIH investigators. They will add new RNAi data into PubChem on an ongoing basis, making the database a growing resource for gene function studies.
‘By releasing all our siRNA sequences, we are enabling novel strategies to advance fundamental understanding of biology and discovery of new potential drug targets,’ said Mark Stevenson, president and chief operating officer of Life Technologies.
NIH invites other companies that sell siRNA libraries and researchers who conduct genome-wide RNAi screens with the Life Technologies library to deposit sequence data and biological activity information into PubChem. For assistance with submitting data to PubChem, researchers may contact info@ncbi.nlm.nih.gov.
‘Translation of siRNA library screening results into impactful downstream experiments is the ultimate goal of scientists using our library,’ said Alan Sachs, M.D., Ph.D., head of global research and development for Life Technologies. ‘The availability of these sequence data should greatly facilitate this effort because scientists no longer will be blinded to the actual sequence they are targeting.’
National Institutes of Health
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Researchers have developed a new assay for rapid and sensitive detection of Chlamydia trachomatis, the most common sexually transmitted infection (STI) in humans. This procedure takes less than 20 minutes and can be easily performed at the point of care (POC) during the patient’s visit.
C. trachomatis affects 5% to 10% of the population and is particularly common in young adults under 25 years. It is a major public health concern due to its prevalence and potential severe long-term consequences. One of the main reasons it is so prevalent is that in the majority of cases (75% of women and 50% of men) there are minimal to no symptoms, and it therefore often goes undiagnosed. Infection is associated with non-gonococcal urethritis in men and several inflammatory reproductive tract syndromes in women such as inflammation of the uterine cervix and pelvic inflammatory disease. Untreated, the infection increases the risk of ectopic pregnancy and is one of the leading causes of female infertility worldwide.
The assay uses recombinase polymerase amplification (RPA), a nucleic acid amplification technique (NAAT), to detect C. trachomatis directly from urine samples. Because the assay’s novel approach does not require the purification of total DNA from the urine sample, the need for specialized equipment is eliminated. The procedure is significantly less laborious, less time-consuming, and consequently less expensive. It is relatively simple to perform and could therefore be applied in numerous POC settings.
‘The assay enables highly specific C. trachomatis detection with sensitivity levels significantly improved compared to currently available C. trachomatis POC assays,’ says Ülo Langel, PhD, Professor of Molecular Biotechnology, University of Tartu, Estonia, and Professor of Neurochemistry,Stockholm University, Sweden.
Existing polymerase chain reaction (PCR)-based techniques for testing C. trachomatis are widely applied but are only suitable for use in hospitals with trained staff and expensive machinery. Studies have shown that up to 50% of patients never return to get the diagnostic result or required treatment.
Although several rapid-diagnosis POC tests have already been developed, none offer a comparable sensitivity to hospital-based techniques. Recent independent studies have shown that currently available POC tests have a sensitivity of just 10% to 40%. Initial analysis of the new assay’s performance indicated a specificity of 100% and a sensitivity of 83%, evidence of its potential reliability.
‘The alarmingly poor performance of the available POC tests for C. trachomatis has limited their wider use, and there is a clear requirement for more sensitive and cost-effective diagnostic platforms. Hence, the need for an applicable on-site test that offers reasonably sensitive detection,’ concludes Prof. Langel.
Elsevier
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A study done by researchers at Fox Chase Cancer Center shows that many relatives of patients who undergo testing for a gene linked to breast and ovarian cancers misinterpret the results, and less than half of those who could benefit from genetic testing say they plan to get tested themselves—despite the fact that knowing your genetic status may help catch the disease in its earliest stages.
‘People don’t always understand genetic information, so there’s confusion,’ says study author Mary B. Daly, MD, PhD, chair of the Department of Clinical Genetics at Fox Chase. ‘Family members are either not understanding what they’re hearing, not realising it has implications for them, or they’re not hearing it at all.’
For a long time, Daly says she ‘naively’ assumed that, once one family member knew whether or not they carried genes linked to breast and ovarian cancers—known as BRCA1/2—their entire family would understand the result, and what it meant for their own genetic risk. ‘Over time, we realised that wasn’t happening, or it wasn’t happening very well.’
Some genetic information is straightforward, says Daly. For example, when a woman learns she carries BRCA1/2 that means her parents, siblings and children may also carry the gene. But there are more ‘indeterminate’ results, which are harder to interpret, she adds. If a woman with a strong family history of breast and ovarian cancers tests negative for the BRCA1/2 genes, that does not mean her relatives are not at risk, says Daly—her siblings could still carry the gene, or there could be additional genes present that predispose them to cancer that clinicians don’t yet know how to test for.
‘When you look at some of these families who are so full of breast and ovarian cancer, and the person tests negative, you think there’s got to be something going on here. We just can’t find it. That’s a difficult thing for someone to explain to a relative,’ says Daly.
To understand better what was (and was not) being communicated after people underwent genetic testing, Daly and her team called 438 relatives of 253 people who had undergone genetic testing and said they’d shared their results. More than one-quarter of family members reported the test result incorrectly. They were most likely to understand positive results—like their family member carries the BRCA1/2 gene. But only 60% understood the so-called ‘indeterminate’ results, where their relative tested negative for the gene but they and other family members could still be at risk. Nearly one-third said they had trouble understanding the result.
Concerningly, only half (52%) of family members whose relative tested positive for the BRCA1/2 gene said they planned to get tested themselves. Among those whose relative tested negative for the BRCA1/2 gene, but knew the gene was present in their families (meaning they could still carry the gene), only 36% said they were going to find out their own genetic risk. ‘These findings imply the family members did not fully understand the significance of these results for their own risk,’ says Daly.
People were more likely to share their results with adult children than parents or siblings, and particularly with female relatives. ‘Over and over you hear people say ‘I’m doing this for my children’s sake,” says Daly.
As part of the study, Daly and her colleagues had asked half of the people getting tested to participate in two coaching sessions to help them communicate their results to relatives, such as through role playing. However, these people were no more likely to communicate the result of their tests than people who had simply sat through educational sessions about overall health. ‘It didn’t matter which group they were in, unfortunately,’ says Daly. ‘That disappointed me.’
But it also inspired her to develop the next project—exploring the effect of directly reaching out to the relatives of someone who underwent genetic testing (with that person’s permission), to see if hearing the results from an expert who’s not personally involved in the situation helps family members understand what they mean.
Fox Chase Cancer Center
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With a new smartphone device, you can now take an accurate iPhone camera selfie that could save your life – it reads your cholesterol level in about a minute.
Forget those clumsy, complicated, home cholesterol-testing devices. Cornell engineers have created the Smartphone Cholesterol Application for Rapid Diagnostics, or ‘smartCARD,’ which employs your smartphone’s camera to read your cholesterol level.
‘Smartphones have the potential to address health issues by eliminating the need for specialized equipment,’ said David Erickson, Cornell associate professor of mechanical engineering and senior author on a new peer-reviewed study. Thanks to advanced, sophisticated camera technology, Erickson and his colleagues have created a smartphone accessory that optically detects biomarkers in a drop of blood, sweat or saliva. The new application then discerns the results using color analysis.
When a user puts a drop of blood on the cholesterol test strip, it processes the blood through separation steps and chemical reactions. The strip is then ready for colorimetric analysis by the smartphone application.
The smartCARD accessory – which looks somewhat like a smartphone credit card reader – clamps over the phone’s camera. Its built-in flash provides uniform, diffused light to illuminate the test strip that fits into the smartCARD reader. The application in the phone calibrates the hue saturation to the image’s colour values on the cholesterol test strip, and the results appear on your phone.
Currently, the test measures total cholesterol. The Erickson lab is working to break out those numbers in LDL (‘bad’ cholesterol), HDL (‘good’ cholesterol) and triglyceride measurements. The lab is also working on detecting vitamin D levels, and has previously demonstrated smartphone tests for periodontitis and sweat electrolyte levels.
David Erickson, Cornell associate professor of mechanical engineering, tests the smartCARD, which uses an application system to read cholesterol levels in about a minute.
‘By 2016, there will be an estimated 260 million smartphones in use in the United States. Smartphones are ubiquitous,’ said Erickson, adding that although smartCARD is ready to be brought to market immediately, he is optimistic that it will have even more its advanced capabilities in less than a year. ‘Mobile health is increasing at an incredible rate,’ he concluded. ‘It’s the next big thing.’
Cornell University
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Negative BRCA testing may not always imply lowered breast cancer risk
, /in E-News /by 3wmediaWomen who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population.
Women with certain mutations in their BRCA1 or BRCA2 genes are at increased risk for breast cancer. However, if a woman who comes from a BRCA family tests negative for her family-specific BRCA mutation, her risk for breast cancer is considered to be the same as someone in the general population, according to the National Cancer Institute. This study, however, suggests that it may not always be true.
‘We found that women who test negative for family-specific BRCA2 mutations have more than four times the risk for developing breast cancer than the general population,’ said Gareth R. Evans, M.B.B.S., M.D., M.R.C.P., F.R.C.P., honorary professor of medical genetics and cancer epidemiology at the Manchester Academic Health Science Center at the University of Manchester in the United Kingdom. ‘We also found that any increased risk for breast cancer is largely limited to BRCA2 families with strong family history and other genetic factors.
‘It is likely that these women inherit genetic factors other than BRCA-related genes that increase their breast cancer risk,’ he explained. ‘About 77 single nucleotide polymorphisms [SNPs—genetic variations that can help track the inheritance of disease genes within families] are linked to breast cancer risk. Identification of additional SNPs is necessary to understand why some of the BRCA-negative women from BRCA families are at higher risk.’
The authors note that specialists should use caution when stating that a woman’s breast cancer risk is the same as that of the general population following a negative test, because it may not be true for some women who come from BRCA2 families with a strong family history.
Evans and colleagues used data from the M6-Inherited Cancer in England study, which has screened families of individuals with breast and/or ovarian cancer for mutations in BRCA1 and 2 since 1996. Details on affected individuals, and all tested and untested relatives, were entered into a Filemaker Pro-7 database. From 807 BRCA families, the researchers identified 49 women who tested negative for the family-specific BRCA mutation, but subsequently developed breast cancer. The researchers called these women ‘phenocopies.’
Of the 49 phenocopies identified, 22 were among 279 women who tested negative from BRCA1 families, and 27 were among 251 women who tested negative from BRCA2 families. When the researchers stratified the phenocopies based on their age (30-39, 40-49, 50-59, and 69-80), they found that in each age range there were about twice as many cases of breast cancer as would have been expected from the general population.
Next, to conduct risk analyses, Evans and colleagues calculated the ‘observed versus expected ratio’ (O/E), a ratio of observed risk for breast cancer in BRCA-negative women from BRCA families, versus the risk expected for any woman in the general population.
They found the O/E for phenocopies from BRCA1 families was not substantially higher than that of the general population; however, the O/E for phenocopies from BRCA2 families was 4.57, leading them to conclude that the more than fourfold increased risk for breast cancer among BRCA-negative women is largely limited to BRCA-negative women from BRCA2 families.
When the researchers considered the date of predictive testing (the date on which BRCA testing was done for an individual) instead of the date of family ascertainment (the date the first family member of the individual was referred to genetic service), O/E dropped from 4.57 to 2.01, ‘because there is less follow-up in the predictive test group from time of testing and we may be unaware of breast cancers that have occurred in the near past,’ explained Evans. American Association for Cancer Research
Genetic mutation increases risk of Parkinson’s disease from pesticides
, /in E-News /by 3wmediaA team of researchers has brought new clarity to the picture of how gene-environmental interactions can kill nerve cells that make dopamine. Dopamine is the neurotransmitter that sends messages to the part of the brain that controls movement and co-ordination. Their discoveries include identification of a molecule that protects neurons from pesticide damage.
‘For the first time, we have used human stem cells derived from Parkinson’s disease patients to show that a genetic mutation combined with exposure to pesticides creates a ‘double hit’ scenario, producing free radicals in neurons that disable specific molecular pathways that cause nerve-cell death,’ says Stuart Lipton, M.D., Ph.D., professor and director of Sanford-Burnham’s Del E. Webb Center for Neuroscience, Aging, and Stem Cell Research and senior author of the study.
Until now, the link between pesticides and Parkinson’s disease was based mainly on animal studies and epidemiological research that demonstrated an increased risk of disease among farmers, rural populations, and others exposed to agricultural chemicals.
In the new study, Lipton, along with Rajesh Ambasudhan, Ph.D., research assistant professor in the Del E. Webb Center, and Rudolf Jaenisch, M.D., founding member of Whitehead Institute for Biomedical Research and professor of biology at the Massachusetts Institute of Technology (MIT), used skin cells from Parkinson’s patients that had a mutation in the gene encoding a protein called alpha-synuclein. Alpha-synuclein is the primary protein found in Lewy bodies—protein clumps that are the pathological hallmark of Parkinson’s disease.
Using patient skin cells, the researchers created human induced pluripotent stem cells (hiPSCs) containing the mutation, and then ‘corrected’ the alpha-synuclein mutation in other cells. Next, they reprogrammed all of these cells to become the specific type of nerve cell that is damaged in Parkinson’s disease, called A9 dopamine-containing neurons—thus creating two sets of neurons—identical in every respect except for the alpha-synuclein mutation.
‘Exposing both normal and mutant neurons to pesticides—including paraquat, maneb, or rotenone—created excessive free radicals in cells with the mutation, causing damage to dopamine-containing neurons that led to cell death,’ said Frank Soldner, M.D., research scientist in Jaenisch’s lab and co-author of the study.
‘In fact, we observed the detrimental effects of these pesticides with short exposures to doses well below EPA-accepted levels,’ said Scott Ryan, Ph.D., researcher in the Del E. Webb Center and lead author of the paper.
Having access to genetically matched neurons with the exception of a single mutation simplified the interpretation of the genetic contribution to pesticide-induced neuronal death. In this case, the researchers were able to pinpoint how cells with the mutation, when exposed to pesticides, disrupt a key mitochondrial pathway—called MEF2C-PGC1alpha—that normally protects neurons that contain dopamine. The free radicals attacked the MEF2C protein, leading to the loss of function of this pathway that would otherwise have protected the nerve cells from the pesticides.
‘Once we understood the pathway and the molecules that were altered by the pesticides, we used high-throughput screening to identify molecules that could inhibit the effect of free radicals on the pathway,’ said Ambasudhan. ‘One molecule we identified was isoxazole, which protected mutant neurons from cell death induced by the tested pesticides. Since several FDA-approved drugs contain derivatives of isoxazole, our findings may have potential clinical implications for repurposing these drugs to treat Parkinson’s.’ Sanford-Burnham Medical Research Institution
Scientists identify protein responsible for controlling communication between brain cells
, /in E-News /by 3wmediaScientists are a step closer to understanding how some of the brain’s 100 billion nerve cells co-ordinate their communication.
The University of Bristol research team investigated some of the chemical processes that underpin how brain cells co-ordinate their communication. Defects in this communication are associated with disorders such as epilepsy, autism and schizophrenia, and therefore these findings could lead to the development of novel neurological therapies.
Neurons in the brain communicate with each other using chemicals called neurotransmitters. This release of neurotransmitter from neurons is tightly controlled by many different proteins inside the neuron. These proteins interact with each other to ensure that neurotransmitter is only released when necessary. Although the mechanisms that control this release have been extensively studied, the processes that co-ordinate how and when the component proteins interact is not fully understood.
The School of Biochemistry researchers have now discovered that one of these proteins called ‘RIM1α’ is modified by a small protein named ‘SUMO’ which attaches to a specific region in RIM1α. This process acts as a ‘molecular switch’ which is required for normal neurotransmitter release.
Jeremy Henley, Professor of Molecular Neuroscience in the University’s Faculty of Medical and Veterinary Sciences and the study’s lead author, said: ‘These findings are important as they show that SUMO modification plays a vital and previously unsuspected role in normal brain function.’ Bristol University
Research may help scientists understand what causes pregnancy complications
, /in E-News /by 3wmediaDr. Hanna Mikkola and researchers at UCLA’s Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have identified a specific type of cell and a related cell communication pathway that are key to the successful growth of a healthy placenta. The findings could greatly bolster our knowledge about the potential causes of complications during pregnancy.
Specifically, the findings could help scientists clarify the particular order in which progenitor cells grow in the placenta, which would allow researchers to track foetal development and identify complications. Progenitor cells are cells that develop into other cells and that initiate growth of the placenta.
The placenta is the organ that forms inside the uterus during pregnancy and enables oxygen and nutrients to reach the foetus, but little is understood about the biological mechanisms and cellular processes responsible for this interface. Studying mouse models, Mikkola and her colleagues tracked individual cells in the placenta to determine which cells and which cell communication routes, or signalling pathways, were responsible for the healthy development of the placenta.
The UCLA team was the first to identify the cells that form the placenta: Epcamhi labyrinth trophoblast progenitors, or LaTP cells, can become the various cells necessary to form a specific tissue, in this case the placenta.
Mikkola and her colleagues also found a signalling pathway that consists of hepatocyte growth factor and its receptor, c-Met. The researchers found that this signalling pathway was required for the placenta to keep making LaTP cells. Production of LaTP cells, in turn, continues the production of the different cells needed to maintain the growth and health of the placenta while the foetus is growing. Placental health enables healthy transmission of oxygen and nutrients through the exchange of blood between the foetus and the mother. In the mice, when c-Met signalling stopped, foetal growth slowed, the liver did not develop fully and it produced fewer blood cells, and the foetus died.
‘Identifying this novel c-Met–dependent multipotent labyrinth trophoblast progenitor is a landmark that may help us understand pregnancy complications that are caused by defective placental exchange, such as foetal growth restriction,’ Mikkola said. University of California – Los Angeles
Hepatitis C antibody test obtains CE mark
, /in E-News /by 3wmediaIt has been estimated that 3 to 4 million people are infected with hepatitis C virus (HCV) each year with the risk of developing liver cirrhosis and/or liver cancer. More than 350,000 people die each year from HCV-related conditions. With earlier detection and diagnosis, patients have a hope of receiving timely treatment and care for improved management of the condition. MP Biomedicals recently obtained the CE Marking for its patented multiparameter HCV test, the Multisure HCV antibody test. This test is intended for the detection and differentiation of Hepatitis C antibodies that may be present in patients with acute or chronic HCV infection. This innovative test is based on the patented reverse-flow technology, giving greater sensitivity and stronger visual signals. Multisure HCV uses human whole blood, plasma or serum. The test is fast and can help differentiate HCV antibodies against both structural and non-structural proteins across six genotypes.
www.mpbio.comMedical mystery solved
, /in E-News /by 3wmediaPeople from around the country and the world turn to Johan Van Hove, MD, PhD, for advice on a rare metabolic disease known as NKH, which can disrupt the body in devastating and even deadly ways. Now, Van Hove, a University of Colorado medical school professor, has identified a new disease related to NKH, a finding that resolves previously baffling cases including the death of a Colorado girl.
‘This opens the door,’ Van Hove said. ‘I am hopeful that it will eventually lead to major advances in dealing with these diseases.’ The research team led by Van Hove, including scientists from the United States and five other countries, calls the new disease variant NKH.
The discovery is part of the new wave of personalised medicine being pioneered at CU and other institutions, in which researchers and doctors delve into the human genome to determine what is causing disease and use the information to try to fix the problem.
Van Hove has been on the trail of NKH for 22 years. Much of the funding for his research comes from families and others who have encountered the disease.
NKH, short for non-ketotic hyperglycinaemia, occurs in about one in 60,000 births. It involves the amino acid glycine, a building block for many functions including movement and brain activity. When a genetic mutation prevents the body from breaking down excess glycine, it can cause brain problems including severe epilepsy and impaired intellectual development.
Scientists know the symptoms of NKH and also the genes that, when they malfunction, cause it. But a few patients worldwide had symptoms or glycine test results that were similar but did not quite match up.
One of those patients was a Colorado girl. She seemed fine until she was six months old. Then she began to lose muscle tone. She lost some control of her head movements. Seizures came next, along with a range of muscle twitches. By eight she lost her ability to walk. At the end, she spent most of her time curled in the foetal position.
Several years ago, at age 11, she died.
Researchers kept her genetic material, as they did with other patients who seemed to fall outside the NKH symptoms or who had molecular test results that were outside of the NKH pattern. The patients, some of whom are living, were scattered around the globe, in Australia, Lebanon, Canada and other countries as well as in the United States.
By looking into the genomes of this group of 11, Van Hove and his colleagues found that eight shared a genetic glitch different than the ones associated with NKH.
In other words, ‘this is a new disease,’ said Van Hove, who practices at Children’s Hospital Colorado.
More testing is likely to reveal more such patients and, he said, may allow development of a new drug to make life better for patients with variant NKH. EurekAlert
Gene-silencing data now publicly available to help scientists better understand disease
, /in E-News /by 3wmediaFor the first time, large-scale information on the biochemical makeup of small interfering RNA (siRNA) molecules is available publicly. These molecules are used in research to help scientists better understand how genes function in disease. Making these data accessible to researchers worldwide increases the potential of finding new treatments for patients.
NIH’s National Center for Advancing Translational Sciences (NCATS) collaborated with Life Technologies Corporation of Carlsbad, Calif., which owns the siRNA information, to make it available to all researchers.
RNA interference(RNAi), a cellular process that can stop specific proteins from being coded by silencing the genes that produce them.
The siRNA molecules, which can selectively inhibit the activity of genes, are used in RNA interference (RNAi) research. RNAi is a natural process that cells use to control the activity of specific genes. Its discovery led to the 2006 Nobel Prize in Physiology or Medicine.
Last month, a team of NIH scientists, led by Richard Youle, Ph.D., at the National Institute of Neurological Disorders and Stroke (NINDS), and Scott Martin, Ph.D., at NCATS, used RNAi to find genes that linked to Parkinson’s disease, a devastating movement disorder. The new genes may represent new starting points for developing treatments.
Scientists have harnessed the power of RNAi to study the function of many individual genes by reducing their activity levels, or silencing them. This process enables researchers to identify genes and molecules that are linked to particular diseases. To do this, researchers use siRNAs, which are RNA molecules that have a complementary chemical makeup, or sequence, to that of a targeted gene. While the gene is silenced, researchers look for changes in cell functions to gain insights about what it normally does. By silencing genes in the cell one at a time, scientists can explore and understand their complex relation to other genes in the context of disease.
Until now, a major limitation in the scientific community’s use of RNAi data has been the lack of a publicly available dataset, along with siRNA sequences directed against every human gene. Historically, providers have not allowed publishing of proprietary siRNA sequence information. To address this problem, NCATS and Life Technologies are providing all researchers with access to siRNA data from Life Technologies’ Silencer Select siRNA library, which includes 65,000 siRNA sequences targeting more than 20,000 human genes. Simultaneously, NCATS is releasing complementary data on the effects of each siRNA molecule on biological functions. All of this information is available to the public free-of-charge through NIH’s public database PubChem.
‘Producing and releasing these data demonstrate NCATS’ commitment to speeding the translational process for all diseases,’ said NCATS Director Christopher P. Austin, M.D. ‘The Human Genome Project showed that public data release is critical to scientific progress. Similarly, I believe that making RNAi data publicly available will revolutionise the study of biology and medicine.’
Experts from the NIH RNAi initiative, administered by NCATS’ Division of Pre-Clinical Innovation, conduct screens for NIH investigators. They will add new RNAi data into PubChem on an ongoing basis, making the database a growing resource for gene function studies.
‘By releasing all our siRNA sequences, we are enabling novel strategies to advance fundamental understanding of biology and discovery of new potential drug targets,’ said Mark Stevenson, president and chief operating officer of Life Technologies.
NIH invites other companies that sell siRNA libraries and researchers who conduct genome-wide RNAi screens with the Life Technologies library to deposit sequence data and biological activity information into PubChem. For assistance with submitting data to PubChem, researchers may contact info@ncbi.nlm.nih.gov.
‘Translation of siRNA library screening results into impactful downstream experiments is the ultimate goal of scientists using our library,’ said Alan Sachs, M.D., Ph.D., head of global research and development for Life Technologies. ‘The availability of these sequence data should greatly facilitate this effort because scientists no longer will be blinded to the actual sequence they are targeting.’ National Institutes of Health
New diagnostic test can detect Chlamydia trachomatis in less than 20 minutes
, /in E-News /by 3wmediaResearchers have developed a new assay for rapid and sensitive detection of Chlamydia trachomatis, the most common sexually transmitted infection (STI) in humans. This procedure takes less than 20 minutes and can be easily performed at the point of care (POC) during the patient’s visit.
C. trachomatis affects 5% to 10% of the population and is particularly common in young adults under 25 years. It is a major public health concern due to its prevalence and potential severe long-term consequences. One of the main reasons it is so prevalent is that in the majority of cases (75% of women and 50% of men) there are minimal to no symptoms, and it therefore often goes undiagnosed. Infection is associated with non-gonococcal urethritis in men and several inflammatory reproductive tract syndromes in women such as inflammation of the uterine cervix and pelvic inflammatory disease. Untreated, the infection increases the risk of ectopic pregnancy and is one of the leading causes of female infertility worldwide.
The assay uses recombinase polymerase amplification (RPA), a nucleic acid amplification technique (NAAT), to detect C. trachomatis directly from urine samples. Because the assay’s novel approach does not require the purification of total DNA from the urine sample, the need for specialized equipment is eliminated. The procedure is significantly less laborious, less time-consuming, and consequently less expensive. It is relatively simple to perform and could therefore be applied in numerous POC settings.
‘The assay enables highly specific C. trachomatis detection with sensitivity levels significantly improved compared to currently available C. trachomatis POC assays,’ says Ülo Langel, PhD, Professor of Molecular Biotechnology, University of Tartu, Estonia, and Professor of Neurochemistry,Stockholm University, Sweden.
Existing polymerase chain reaction (PCR)-based techniques for testing C. trachomatis are widely applied but are only suitable for use in hospitals with trained staff and expensive machinery. Studies have shown that up to 50% of patients never return to get the diagnostic result or required treatment.
Although several rapid-diagnosis POC tests have already been developed, none offer a comparable sensitivity to hospital-based techniques. Recent independent studies have shown that currently available POC tests have a sensitivity of just 10% to 40%. Initial analysis of the new assay’s performance indicated a specificity of 100% and a sensitivity of 83%, evidence of its potential reliability.
‘The alarmingly poor performance of the available POC tests for C. trachomatis has limited their wider use, and there is a clear requirement for more sensitive and cost-effective diagnostic platforms. Hence, the need for an applicable on-site test that offers reasonably sensitive detection,’ concludes Prof. Langel.
ElsevierFamilies don’t understand genetic test results or their implications
, /in E-News /by 3wmediaA study done by researchers at Fox Chase Cancer Center shows that many relatives of patients who undergo testing for a gene linked to breast and ovarian cancers misinterpret the results, and less than half of those who could benefit from genetic testing say they plan to get tested themselves—despite the fact that knowing your genetic status may help catch the disease in its earliest stages.
‘People don’t always understand genetic information, so there’s confusion,’ says study author Mary B. Daly, MD, PhD, chair of the Department of Clinical Genetics at Fox Chase. ‘Family members are either not understanding what they’re hearing, not realising it has implications for them, or they’re not hearing it at all.’
For a long time, Daly says she ‘naively’ assumed that, once one family member knew whether or not they carried genes linked to breast and ovarian cancers—known as BRCA1/2—their entire family would understand the result, and what it meant for their own genetic risk. ‘Over time, we realised that wasn’t happening, or it wasn’t happening very well.’
Some genetic information is straightforward, says Daly. For example, when a woman learns she carries BRCA1/2 that means her parents, siblings and children may also carry the gene. But there are more ‘indeterminate’ results, which are harder to interpret, she adds. If a woman with a strong family history of breast and ovarian cancers tests negative for the BRCA1/2 genes, that does not mean her relatives are not at risk, says Daly—her siblings could still carry the gene, or there could be additional genes present that predispose them to cancer that clinicians don’t yet know how to test for.
‘When you look at some of these families who are so full of breast and ovarian cancer, and the person tests negative, you think there’s got to be something going on here. We just can’t find it. That’s a difficult thing for someone to explain to a relative,’ says Daly.
To understand better what was (and was not) being communicated after people underwent genetic testing, Daly and her team called 438 relatives of 253 people who had undergone genetic testing and said they’d shared their results. More than one-quarter of family members reported the test result incorrectly. They were most likely to understand positive results—like their family member carries the BRCA1/2 gene. But only 60% understood the so-called ‘indeterminate’ results, where their relative tested negative for the gene but they and other family members could still be at risk. Nearly one-third said they had trouble understanding the result.
Concerningly, only half (52%) of family members whose relative tested positive for the BRCA1/2 gene said they planned to get tested themselves. Among those whose relative tested negative for the BRCA1/2 gene, but knew the gene was present in their families (meaning they could still carry the gene), only 36% said they were going to find out their own genetic risk. ‘These findings imply the family members did not fully understand the significance of these results for their own risk,’ says Daly.
People were more likely to share their results with adult children than parents or siblings, and particularly with female relatives. ‘Over and over you hear people say ‘I’m doing this for my children’s sake,” says Daly.
As part of the study, Daly and her colleagues had asked half of the people getting tested to participate in two coaching sessions to help them communicate their results to relatives, such as through role playing. However, these people were no more likely to communicate the result of their tests than people who had simply sat through educational sessions about overall health. ‘It didn’t matter which group they were in, unfortunately,’ says Daly. ‘That disappointed me.’
But it also inspired her to develop the next project—exploring the effect of directly reaching out to the relatives of someone who underwent genetic testing (with that person’s permission), to see if hearing the results from an expert who’s not personally involved in the situation helps family members understand what they mean. Fox Chase Cancer Center
Picture of health: a selfie that may save your life
, /in E-News /by 3wmediaWith a new smartphone device, you can now take an accurate iPhone camera selfie that could save your life – it reads your cholesterol level in about a minute.
Forget those clumsy, complicated, home cholesterol-testing devices. Cornell engineers have created the Smartphone Cholesterol Application for Rapid Diagnostics, or ‘smartCARD,’ which employs your smartphone’s camera to read your cholesterol level.
‘Smartphones have the potential to address health issues by eliminating the need for specialized equipment,’ said David Erickson, Cornell associate professor of mechanical engineering and senior author on a new peer-reviewed study. Thanks to advanced, sophisticated camera technology, Erickson and his colleagues have created a smartphone accessory that optically detects biomarkers in a drop of blood, sweat or saliva. The new application then discerns the results using color analysis.
When a user puts a drop of blood on the cholesterol test strip, it processes the blood through separation steps and chemical reactions. The strip is then ready for colorimetric analysis by the smartphone application.
The smartCARD accessory – which looks somewhat like a smartphone credit card reader – clamps over the phone’s camera. Its built-in flash provides uniform, diffused light to illuminate the test strip that fits into the smartCARD reader. The application in the phone calibrates the hue saturation to the image’s colour values on the cholesterol test strip, and the results appear on your phone.
Currently, the test measures total cholesterol. The Erickson lab is working to break out those numbers in LDL (‘bad’ cholesterol), HDL (‘good’ cholesterol) and triglyceride measurements. The lab is also working on detecting vitamin D levels, and has previously demonstrated smartphone tests for periodontitis and sweat electrolyte levels.
David Erickson, Cornell associate professor of mechanical engineering, tests the smartCARD, which uses an application system to read cholesterol levels in about a minute.
‘By 2016, there will be an estimated 260 million smartphones in use in the United States. Smartphones are ubiquitous,’ said Erickson, adding that although smartCARD is ready to be brought to market immediately, he is optimistic that it will have even more its advanced capabilities in less than a year. ‘Mobile health is increasing at an incredible rate,’ he concluded. ‘It’s the next big thing.’ Cornell University