Researchers at the University of Southern California Leonard Davis School of Gerontology announced last week the discovery of a genetic mutation that significantly reduces the risk of developing Parkinson’s disease.
The genetic mutation occurs on small humanin-like peptide 2 (SHLP2), a protein produced by mitochondria. It was first discovered in 2016 by Dr. Pinchas Cohen, who showed that SHLP2 was associated with a lower risk of cancer and that its levels fluctuated in people with Parkinson’s disease, increasing with the body’s early attempt to counteract the disease but dropping off as Parkinson’s progressed.
The study, published in Molecular Psychiatry, looked at the genetic profiles of thousands of people from the Health Retirement Study, the Cardiovascular Health Study, and the Framingham Heart Study. Researchers screened participants for variants of SHLP2 and compared individuals with and without Parkinson’s disease. They found that a rare mutation occurring in 1% of Europeans reduced the risk of Parkinson’s by 50%.
The mutation occurs on a single nucleotide and appears to increase levels of SHLP2 and make it more stable, allowing it to better protect against mitochondrial dysfunction. Although mitochondrial dysfunction has been implicated in Parkinson’s disease, this is the first study to discover a possible mechanism. The study authors hope that “… a deeper understanding of the effects of this genetic polymorphism and its related mitochondrial microprotein will provide a basis for developing novel therapeutic targets in Parkinson’s disease.”