Gene Locus (PTPRD) Variant Discovered Associated with Tau Pathology in Brain; PTPRD Variant Associated with Susceptibility to Neurofibrillary Tangles (NFTs)

Investigators at Rush University Medical Center in Chicago and the Brigham and Women's Hospital in Boston have reported the discovery of a new gene that is associated with susceptibility to a common form of brain pathology called Tau (image of Tau protein) that accumulates in several different conditions, including Alzheimer's disease, certain forms of dementia, and Parkinsonian syndromes, as well as chronic traumatic encephalopathy that occurs with repeated head injuries. Published online on March 21, 2017 in Molecular Psychiatry, the manuscript describes the identification and validation of a genetic variant within the protein tyrosine phosphatase receptor-type delta (PTPRD) gene. The article is titled “Susceptibility to Neurofibrillary Tangles: Role of the PTPRD Locus and Limited Pleiotropy with Other Neuropathologies.” "Aging leads to the accumulation of many different pathologies in the brain," said Co-Principal Investigator Dr. David Bennett who directs the Alzheimer Disease Center at Rush. "One of the most common forms of pathology is the neurofibrillary tangle (NFT) that was at the center of our study," he said. "The 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's disease and other brain diseases." Using 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. Lead author Dr. Lori Chibnik of Brigham and Women's Hospital said that "the 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.
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