{"id":5094,"date":"2014-07-28T16:10:17","date_gmt":"2014-07-28T20:10:17","guid":{"rendered":"http:\/\/www.bumc.bu.edu\/busm\/?p=5094"},"modified":"2014-07-28T16:10:17","modified_gmt":"2014-07-28T20:10:17","slug":"researchers-identify-potential-biomarker-for-alzheimers","status":"publish","type":"post","link":"https:\/\/www.bumc.bu.edu\/camed\/2014\/07\/28\/researchers-identify-potential-biomarker-for-alzheimers\/","title":{"rendered":"Researchers Identify Potential Biomarker for Alzheimer’s"},"content":{"rendered":"
\"BUSM's<\/a>
BUSM’s Dr. Lindsay Farrer is the corresponding author of the study.<\/figcaption><\/figure>\n

Researchers from Boston University School of Medicine (BUSM) report variants in a new gene, PLXNA4<\/i>, <\/i>which may increase the risk of developing Alzheimer\u2019s disease (AD). The discovery of this novel genetic association may lead to new drug treatment options that target PLXNA4 <\/i>specifically. <\/i>These findings appear in the Annals of Neurology<\/i>.<\/p>\n

AD is the most frequent age-related dementia affecting 5.4 million Americans including 13 percent of people age 65 and older, and more than 40 percent of people age 85 and older. Genetic factors account for much of the risk for developing AD with heritability estimates between 60 percent and 80 percent. However much of the genetic basis for the disease is unexplained. Less than 50 percent of the genetic contribution to AD is supported by known common genetic variations.<\/p>\n

Using data from the Framingham Heart Study<\/a>, the researchers obtained strong evidence of an association with several single nucleotide polymorphism in PLXNA4<\/i>, a gene <\/i>which had not been previously linked to AD. They <\/i>then confirmed this finding in a larger dataset from the Alzheimer\u2019s Disease Genetics Consortium and other datasets. Next, they performed a series of experiments in models that pinpointed the mechanism by which this gene affects AD risk. \u201cImportantly, this is one of few single studies which go from gene finding to mechanism,\u201d explained corresponding author Lindsay Farrer, PhD<\/a>, Chief of Biomedical Genetics and professor of medicine, neurology, ophthalmology, epidemiology and biostatistics at BUSM.<\/p>\n

According to the researchers a form of the protein encoded by this gene promotes formation of neurofibrillary tangles consisting of decomposed tau protein, one of the two pathological hallmarks of the disease. \u201cWe showed that PLXNA4<\/i> affects the processing of tau as it relates to neurofibrillary tangles, the primary marker of AD. \u00a0Most drugs that have been developed or that are in development for treating AD are intended to reduce the toxic form of beta-amyloid, a sticky substance that accumulates in the brain of persons with AD, and none have been very effective. Only a few drugs have targeted the tau pathway,\u201d added Farrer.<\/p>\n

This study was supported by grants from the National Institute on Aging (R01-AG025259, P30-AG13846, R01-AG0001, U24-AG021886, U24-AG26395, R01-AG041797 and P50-AG005138), the Alzheimer Association, the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (#A110742), and the Evans Center for Interdisciplinary Biomedical Research (ECIBR) ARC on \u201cProtein Trafficking and Neurodegenerative Disease\u201d at Boston University.<\/p>\n

To view the complete findings of the study,\u00a0PLXNA4<\/em>\u00a0is Associated with Alzheimer Disease and Modulates Tau Phosphorylation<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"

Researchers from Boston University School of Medicine (BUSM) report variants in a new gene, PLXNA4, which may increase the risk of developing Alzheimer\u2019s disease (AD). The discovery of this novel genetic association may lead to new drug treatment options that target PLXNA4 specifically. These findings appear in the Annals of Neurology. AD is the most […]<\/p>\n","protected":false},"author":7398,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[105],"_links":{"self":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/5094"}],"collection":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/users\/7398"}],"replies":[{"embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/comments?post=5094"}],"version-history":[{"count":0,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/posts\/5094\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/media?parent=5094"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/categories?post=5094"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.bumc.bu.edu\/camed\/wp-json\/wp\/v2\/tags?post=5094"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}