Study links a new gene to tauopathy

Neurofibrillary tangles (NFTs) -- aggregates of abnormally formed tau protein -- occur as part of the normal aging process. But in certain diseases such as Alzheimer's disease (AD), Lytico-Bodig disease, and Postencephalitic parkinsonism, the amounts of NFTs are far greater. These diseases are known as tauopathies.

It is believed that NFTs are a major contributor to cognitive decline in AD, but the precise mechanism of NFT formation is not fully understood. Now a team of researchers from Rush University Medical Center and the Brigham and Women's Hospital in Boston has found that a gene called PTPRD is associated with susceptibility to NFTs. The study's findings were published 21 March 2017 in the journal Molecular Psychiatry.

In the study, the team examined autopsies from 909 individuals and identified a genetic variant in the PTPRD gene that seemed to be associated with the accumulation of NFTs. The researchers the validated the finding in an independent data set of 369 autopsies.

According to study first author Lori Chibnik, this genetic variant is common: the majority of people have one or two copies of the version of the gene. Furthermore, the newly identified variant can influence multiple mechanisms of the formation of NFTs. Study senior author De Jager noted the results need further validation. How PTPRD and the variant contribute to NFT accumulation is still a mystery.

Previous studies in animals have shown that PTPRD plays a role in memory dysfunction and worsening of Tau pathology. These studies and the new work indicate that manipulating PTPRD levels might be a way to decrease the burden of Tau pathology.
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