An international team of researchers led by Gerard D. Schellenberg, PhD, a member of the CurePSP Genetics Consortium and professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania, has identified three new genes that can increase the risk of people developing Progressive Supranuclear Palsy (PSP).

PSP is a rare neurodegenerative brain disease, similar to Parkinson's disease, which causes severe disability by destroying parts of cells that allow the brain to function normally. While PSP has underlying biological similarities to Alzheimer's disease, a disease which primarily affects memory, PSP impacts a person's physical movement and bodily functions. PSP leads to progressive decline in patients there is no known cause or cure.

The study found significant genetic signals associated with PSP risk at several genes including STX6, EIF2AK3, MOBP, and confirmed two variants within MAPT (the tau gene), which influences tau expression in the brain. The identified genes encode proteins for vesicle functioning, protein folding, and myelin critical functions that help the brain operate normally. The findings appear in the current issue of Nature Genetics (NG-A29596R1).

"The CurePSP Genetics Program and this genome-wide association study is perhaps the single most important research project to date funded by the Foundation," said Dr. Richard Gordon Zyne, President-CEO of CurePSP. "The study, which is a product of our genetics program, is significant because it will help researchers better understand the factors that lead to the development of PSP."

Understanding the cause of the disease is a critical step in the battle against PSP, and may lead to the creation of tools for early diagnosis, preventative drug treatments, and eventually, a cure.

The study was supported by grants from the Foundation for PSP | CBD and Related Brain Diseases (CurePSP), the Peebler PSP Research Foundation, and the National Institutes of Health (NIH)'s National Institute on Aging (NIA) and the National Institute of Mental Health (NIMH), among other organizations.

Source: CurePSP