{"id":1092,"date":"2020-08-26T09:33:00","date_gmt":"2020-08-26T09:33:00","guid":{"rendered":"https:\/\/clinlabint.3wstaging.nl\/gene-discovered-associated-with-tau-pathology\/"},"modified":"2021-01-08T11:09:35","modified_gmt":"2021-01-08T11:09:35","slug":"gene-discovered-associated-with-tau-pathology","status":"publish","type":"post","link":"https:\/\/clinlabint.com\/gene-discovered-associated-with-tau-pathology\/","title":{"rendered":"Gene discovered associated with Tau pathology"},"content":{"rendered":"

Investigators at Rush University Medical Center and the Brigham and Women\u2019s Hospital in Boston reported the discovery of a new gene that is associated with susceptibility to a common form of brain pathology called Tau that accumulates in several different conditions, including Alzheimer\u2019s disease, certain forms of dementia and Parkinsonian syndromes as well as chronic traumatic encephalopathy that occurs with repeated head injuries.<\/span>
\nThe manuscript describes the identification and validation of a genetic variant within the protein tyrosine phosphatase receptor-type delta (PTPRD) gene.<\/span>
\n\u201cAging leads to the accumulation of many different pathologies in the brain,\u201d said co-principal investigator Dr. David Bennett who directs the Alzheimer Disease Center at Rush. \u201cOne of the most common forms of pathology is the neurofibrillary tangle (NFT) that was at the centre of our study,\u201d he said. \u201cThe NFT is thought to be more closely related to memory decline than other forms of aging-related pathologies, but there are still very few genes that have been implicated in the accumulation of this key feature of Alzheimer\u2019s disease and other brain diseases.\u201d<\/span>
\nUsing autopsies from 909 individuals participating in studies of aging based at Rush University, the team of investigators assessed the human genome for evidence that a genetic variant could affect NFT.<\/span>
\n\u201cThe variant that we discovered is common: Most people have one or two copies of the version of the gene that is linked to accumulating more pathology as you get older," said lead author Dr. Lori Chibnik of Brigham and Women\u2019s Hospital. "Interestingly, tangles can accumulate through several different mechanisms, and the variant that we discovered appears to affect more than one of these mechanisms.\u201d<\/span>
\nThe reported results offer an important new lead as the field of neurodegeneration searches for robust novel targets for drug development. This is especially true given the recent disappointing results in Alzheimer\u2019s disease trials targeting amyloid, the other major form of pathology related to Alzheimer\u2019s disease.<\/span>
\nTau pathology is more closely connected to loss of brain function with advancing age and may be more impactful as a target. The advent of new techniques to measure Tau in the brains of living individuals with positron emission tomography offers a biomarker for therapies targeting Tau.<\/span>
\n\u201cThis study is an important first step," Dr. De Jager, co-principal investigator at Brigham and Women\u2019s Hospital, notes. "However, the result needs further validation, and the mechanism by which the PTPRD gene and the variant that we have discovered contribute to the accumulation of NFT remains elusive. Other studies in mice and flies implicate PTPRD in memory dysfunction and worsening of Tau pathology, suggesting that altering the level of PTPRD activity could be helpful in reducing an individual\u2019s burden of Tau pathology.\u201d<\/span>
\n <\/span>
\nRush University Medical Center<\/span>
\nwww.rush.edu\/news\/press-releases\/new-gene-discovered-associated-tau-pathology<\/link><\/a><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

Investigators at Rush University Medical Center and the Brigham and Women\u2019s Hospital in Boston reported the discovery of a new gene that is associated with susceptibility to a common form of brain pathology called Tau that accumulates in several different conditions, including Alzheimer\u2019s disease, certain forms of dementia and Parkinsonian syndromes as well as chronic […]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"categories":[35],"tags":[],"_links":{"self":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1092"}],"collection":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/comments?post=1092"}],"version-history":[{"count":0,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/posts\/1092\/revisions"}],"wp:attachment":[{"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/media?parent=1092"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/categories?post=1092"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/clinlabint.com\/wp-json\/wp\/v2\/tags?post=1092"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}