Investigators at Rush University Medical Center and the Brigham and Women’s 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’s disease, certain forms of dementia and Parkinsonian syndromes as well as chronic traumatic encephalopathy that occurs with repeated head injuries.
Published in Molecular Psychiatry, the manuscript describes the identification and validation of a genetic variant within the protein tyrosine phosphatase receptor-type delta (PTPRD) gene.
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.
“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,” said lead author Dr. Lori Chibnik of Brigham and Women’s Hospital. “Interestingly, tangles can accumulate through several different mechanisms, and the variant that we discovered appears to affect more than one of these mechanisms.”
The 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’s disease trials targeting amyloid, the other major form of pathology related to Alzheimer’s disease.
Tau 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.
Image: Tau protein spread
Image via Web Books and Washington University School of Medicine