Researchers Identify New Risk Factor for FTD, Other Neurodegenerative Diseases


A group of scientists have identified a new risk factor for multiple neurodegenerative diseases, including FTD, ALS and Alzheimer’s.

In the study, published in the American Journal of Human Genetics in April, researchers sequenced and analyzed whole genomes of more than 1,100 people. Of those people, 493 had either FTD, ALS or Alzheimer’s, and the remaining 671 had no known neurodegenerative disease.

The findings showed that a rare variation in the gene TET2 nearly doubled the risk of developing neurological diseases like FTD, ALS and Alzheimer’s. The findings have been characterized as “exciting,” due to the role of TET2 in DNA demethylation. Previous work has shown that changes in DNA methylation happen during aging, so the study authors hypothesize that mutations in the gene could lead to a faulty TET2 protein that disrupts how the brain ages and contributes to the development of neurodegenerative diseases.

“We already know that these diseases share some pathologies,” said Richard M. Myers, PhD, HudsonAlpha president and science director, in a news release. “This work shows that the underlying causes of those pathologies may also be shared.”

The study was the product of collaboration between researchers at the HudsonAlpha Institute for Biotechnology, the University of California, San Francisco (UCSF), and the University of Alabama at Birmingham (UAB). Jennifer Yokoyama, PhD, an assistant professor of neurology at UCSF and past AFTD Clinical Research Pilot Grant recipient, worked with the lead scientists on technical details and was the point person for sample collection.

Researchers will next focus on how changes to TET2 levels or function could contribute to aging and neurodegenerative disease.

To read more about the study, click here.

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