Dr James Flanagan, a Breast Cancer Campaign scientific fellow in the Department of Surgery and Cancer at Imperial College London, has uncovered the first strong evidence that molecular or ‘epigenetic’ changes in a gene can be associated with breast cancer risk and can be detected many years before breast cancer develops.
The research involved 640 women with breast cancer and 741 controls who enrolled in three previous studies, the earliest of which began in 1992. The researchers analysed blood samples that the women donated on average three years before being diagnosed with breast cancer to find out whether the alteration of single genes by a process called methylation can predict whether women have an increased breast cancer risk.
Dr Flanagan found that the women with the highest level of methylation on one area of a gene called ATM were twice as likely to get breast cancer as women with the lowest level. This result was particularly clear in blood samples taken from women under the age of 60.
Importantly, because this is the first study using blood taken on average three years before diagnosis and in some cases up to eleven years, it shows that the genes were not altered because of active cancer in the body or by treatments for cancer, which has been a problem with previous studies that took blood after diagnosis.
These findings provide strong evidence that looking at this type of epigenetic alteration (methylation) on individual genes could be used as a blood test to help assess breast cancer risk. When used in combination with other risk assessment tools such as genetic testing and risk factor profiling, this simple blood test could identify those at higher risk, helping doctors to monitor and one day maybe even prevent breast cancer ever developing.
The findings now need rigorous testing in many more individuals and many more genes that contribute to a person’s risk profile need to be identified, as this is just one gene that makes up a small component.
Epigenetics research is changing the way scientists think about genes and their development and so could play an important role in helping to prevent cancer. It was previously thought that only errors in the fundamental genetic information from our DNA – whether inherited or caused by environmental factors – determined whether our cells become cancerous. However, new research is showing how chemical modifications to DNA, that control our genes, could be even more important than our DNA alone in determining how our cells grow. Imperial College London

​Neuroscientist Patrik Verstreken, associated with VIB and KU Leuven, succeeded in undoing the effect of one of the genetic defects that leads to Parkinson’s using vitamin K2. His discovery gives hope to Parkinson’s patients. This research was done in collaboration with colleagues from Northern Illinois University (US) .
‘It appears from our research that administering vitamin K2 could possibly help patients with Parkinson’s. However, more work needs to be done to understand this better,’ says Patrik Verstreken.
Malfunctioning power plants are at the basis of Parkinson’s.
If we looked at cells as small factories, then mitochondria would be the power plants responsible for supplying the energy for their operation. They generate this energy by transporting electrons. In Parkinson’s patients, the activity of mitochondria and the transport of electrons have been disrupted, resulting in the mitochondria no longer producing sufficient energy for the cell. This has major consequences as the cells in certain parts of the brain will start dying off, disrupting communication between neurons. The results are the typical symptoms of Parkinson’s: lack of movement (akinesia), tremors and muscle stiffness.
The exact cause of this neurodegenerative disease is not known. In recent years, however, scientists have been able to describe several genetic defects (mutations) found in Parkinson’s patients, including the so-called PINK1 and Parkin mutations, which both lead to reduced mitochondrial activity. By studying these mutations, scientists hope to unravel the mechanisms underlying the disease process.
Fruit flies (Drosophila) are frequently used in lab experiments because of their short life spans and breeding cycles, among other things. Within two weeks of her emergence, every female is able to produce hundreds of offspring. By genetically modifying fruitflies, scientists can study the function of certain genes and proteins. Patrik Verstreken and his team used fruitflies with a genetic defect in PINK1 or Parkin that is similar to the one associated with Parkinson’s. They found that the flies with a PINK1 or Parkin mutation lost their ability to fly.
Upon closer examination, they discovered that the mitochondria in these flies were defective, just as in Parkinson’s patients. Because of this they generated less intracellular energy – energy the insects needed to fly. When the flies were given vitamin K2, the energy production in their mitochondria was restored and the insects’ ability to fly improved. The researchers were also able to determine that the energy production was restored because the vitamin K2 had improved electron transport in the mitochondria. This in turn led to improved energy production.
Vitamin K2 plays a role in the energy production of defective mitochondria. Because defective mitochondria are also found in Parkinson’s patients with a PINK1 or Parkin mutation, vitamin K2 potentially offers hope for a new treatment for Parkinson’s. VIB (the Flanders Institute for Biotechnology)

The hormone oxytocin—often referred to as the ‘trust’ hormone or ‘love hormone’ for its role in stimulating emotional responses—plays an important role in Williams syndrome (WS), according to a study.
The study, a collaboration between scientists at the Salk Institute for Biological Studies and the University of Utah, found that people with WS flushed with the hormones oxytocin and arginine vasopressin (AVP) when exposed to emotional triggers.
The findings may help in understanding human emotional and behavioural systems and lead to new treatments for devastating illnesses such as WS, post-traumatic stress disorder, anxiety and possibly even autism.
‘Williams syndrome results from a very clear genetic deletion, allowing us to explore the genetic and neuronal basis of social behaviour,’ says Ursula Bellugi, the director of Salk’s Laboratory for Cognitive Neuroscience and a co-author on the paper. ‘This study provides us with crucial information about genes and brain regions involved in the control of oxytocin and vasopressin, hormones that may play important roles in other disorders.’
WS arises from a faulty recombination event during the development of sperm or egg cells. As a result, virtually everyone with WS has exactly the same set of genes missing (25 to 28 genes are missing from one of two copies of chromosome 7). There also are rare cases of individuals who retain one or more genes that most people with the disorder have lost.
To children with WS, people are much more comprehensible than inanimate objects. Despite myriad health problems they are extremely gregarious, irresistibly drawn to strangers, and insist on making eye contact. They have an affinity for music. But they also experience heightened anxiety, have an average IQ of 60, experience severe spatial-visual problems, and suffer from cardiovascular and other health issues. Despite their desire to befriend people, they have difficulty creating and maintaining social relationships, something that is not at all understood but can afflict many people without WS.
In the new study, led by Dr. Julie R. Korenberg, a University of Utah professor and Salk adjunct professor, the scientists conducted a trial with 21 participants, 13 who have WS and a control group of eight people without the disorder. The participants were evaluated at the Cedars-Sinai Medical Center in Los Angeles. Because music is a known strong emotional stimulus, the researchers asked participants to listen to music.
Before the music was played, the participants’ blood was drawn to determine a baseline level for oxytocin, and those with WS had three times as much of the hormone as those without the syndrome. Blood also was drawn at regular intervals while the music played and was analysed afterward to check for real-time, rapid changes in the levels of oxytocin and AVP. Other studies have examined how oxytocin affects emotion when artificially introduced into people, such as through nasal sprays, but this is one of the first significant studies to measure naturally occurring changes in oxytocin levels in rapid, real time as people undergo an emotional response.
There was little outward response to the music, but when the blood samples were analysed, the researchers were happily surprised. The analyses showed that the oxytocin levels, and to a lesser degree AVP, had not only increased but begun to bounce among WS participants while among those without WS, both the oxytocin and AVP levels remained largely unchanged as they listened to music.
Korenberg believes the blood analyses strongly indicate that oxytocin and AVP are not regulated correctly in people with WS, and that the behavioural characteristics unique to people with WS are related to this problem.
‘This shows that oxytocin quite likely is very involved in emotional response,’ Korenberg says.
To ensure accuracy of results, those taking the test also were asked to place their hands in 60-degree Fahrenheit water to test for negative stress, and the same results were produced as when they listened to music. Those with WS experienced an increase in oxytocin and AVP, while those without the syndrome did not. Salk Institute

Scientists from the University of Liverpool’s School of Environmental Sciences are working with computer modelling specialists from C-MMACS in India to predict areas of the country that are at most risk of malaria outbreaks, following changes in monsoon rainfall. The number of heavy rainfall events in India has increased over the past 50 years, but research has tended to focus on the impact this has on agriculture rather than the vector-borne diseases, such as malaria and Japanese encephalitis. The model could help inform early intervention methods to prevent the spread of malaria at key points in the seasonal monsoon cycle, reducing the economic and health impacts of the disease. It is already known that an anomalous season of heavy rainfall, when heat and humidity are high, allows mosquitoes to thrive and spread infection to humans. In order to prepare health services and prevent epidemics there is need for a way of predicting when these events are likely to occur in areas that are not accustomed to annual outbreaks of malaria. C-MMACS is rapidly developing its computer modelling capabilities using technology that can address the impacts of climate variability on agriculture and water systems. This knowledge, together with the Liverpool models of vector-borne diseases, will help develop systems to predict when changes in the monsoonal rain may occur and which areas are most likely to see an increase in malaria.

Cedars-Sinai researchers have linked Kawasaki Disease, a serious childhood illness that causes inflammation of blood vessels throughout the body, with early-onset and accelerated atherosclerosis, a leading cause of heart disease in adults.
In a study, an American Heart Association peer-reviewed medical journal, a team of researchers showed how Kawasaki Disease in young mice predisposed them to develop accelerated atherosclerosis, often called hardening of the arteries, in young adulthood. The study also suggests that aggressive early treatment of the blood vessel inflammation caused by Kawasaki Disease may reduce the future risk of developing accelerated atherosclerosis. Up to 25 percent of children with Kawasaki Disease will develop inflammation of the coronary arteries, making it the leading cause of acquired heart disease among children in developed countries.
‘Heart disease is the leading cause of death in this country and this study suggests that adult cardiovascular diseases likely start during childhood and that Kawasaki Disease may play a role in the childhood origin of adult heart disease,’ said Moshe Arditi, MD, executive vice chair of research in Cedars-Sinai’s Department of Pediatrics in the Maxine Dunitz Children’s Health Center and director of the Division of Pediatric Infectious Diseases and Immunology. ‘By recognising the connection between this vascular inflammatory disease and hardening of the arteries in young adults, physicians will be better prepared to provide preventive care to these vulnerable patients.’
Arditi said the study’s findings also may have implications for children with Kawasaki Disease in that they may need to be closely monitored for future development of early-onset atherosclerosis. Also, doctors treating children who have had Kawasaki Disease should closely monitor other known cardiovascular disease risk factors such as obesity, high blood pressure, high cholesterol and smoking, Arditi said.
Kawasaki Disease is diagnosed in approximately 5,000 U.S. children every year, predominantly affecting children younger than five. Boys are more likely than girls to acquire Kawasaki Disease, which starts with a sudden, persistent fever and causes swollen hands and feet, red eyes and body rash. Scientists suspect Kawasaki Disease is the body’s immune reaction to a virus that has yet to be identified.
Atherosclerosis occurs when fat, cholesterol, and other substances build up in the walls of arteries and form hard structures called plaques. Over the course of years, plaque buildup makes it harder for blood to flow because the plaque narrows arteries and makes them stiffer. When pieces of plaque break off and move to smaller vessels, they can cause stroke, heart attack or pulmonary embolism.
In the study, which was funded with a grant from the National Institute of Allergy and Infectious Diseases, mice with Kawasaki Disease were fed a high-fat diet and then compared to mice that did not have Kawasaki Disease but did eat the same high-fat diet. The Kawasaki mice developed significantly more atherosclerotic plaque at a younger age.
‘This study suggests that timely diagnosis and aggressive initial treatment of the vascular inflammation may be important in preventing this potentially serious future complication,’ said co-author Prediman K. Shah, MD, director of cardiology, director of the and the Shapell and Webb Family Chair in Clinical Cardiology at the Cedars-Sinai Heart Institute. EurekAlert