A recently discovered genetic mutation offers hope for new treatments for Parkinson’s disease, because people who carry it are half as likely to develop the condition.
- A genetic mutation in a mitochondrial microprotein offers protection against Parkinson’s disease.
- Carriers have half the risk of developing the disease.
- Its discovery paves the way for future treatments against pathology and other diseases linked to aging.
Research into Parkinson’s disease is progressing. According to a new study published on January 2 in Molecular Psychiatry, a genetic mutation present in a mitochondrial microprotein could become a key to the development of new treatments. The authors of this work, scientists from the USC Leonard Davis School of Gerontology, in Los Angeles, found that it offers protection against the disease.
Parkinson’s disease: a genetic variant discovered in 2016
The team discovered this mitochondrial microprotein, called SHLP2, in 2016. Research has shown that it is associated with protection against aging-related diseases, including cancer, and that its levels change in patients with the disease. of Parkinson’s. They increase when the body acts to counteract the effects of the disease, then eventually stagnate.
In this recent work, lead study author Su-Jeong Kim, research assistant professor of gerontology at the USC Leonard Davis School, led a series of experiments on this microprotein. With his team, they searched for genetic mutations in thousands of individuals in databases. By comparing genetic variants of mitochondrial DNA in Parkinson’s patients and controls, researchers found this highly protective variant in 1% of Europeans, and it halved the risk of Parkinson’s disease.
Parkinson’s disease: what are the effects of this genetic mutation?
Secondly, they demonstrated that this natural variant leads to a modification of the amino acid sequence and protein structure of SHLP2: concretely, the mutation is associated with a higher expression of SHLP2 and also makes the microprotein more stable . This increased stability means there is a reduction in mitochondrial dysfunction. “The benefits of the mutant form of SHLP2 were observed both in in vitro experiments on human tissue samples as well as in mouse models of Parkinson’s disease., say the authors. In their tests, they found that the mutation binds to the mitochondrial complex. “This enzyme is essential for life and the decline in its function has been linked not only to Parkinson’s disease, but also to strokes and heart attacks.”they indicate.
Future treatments against Parkinson’s disease and other pathologies linked to aging?
For American researchers, this genetic mutation offers new perspectives for scientific research. “This study advances our understanding of why people might get Parkinson’s disease and how we might develop new treatments for this devastating diseaseconcludes Pinchas Cohen, professor of gerontology, medicine and biological sciences and co-author of the study. (…) This highlights the relevance of exploring mitochondria-derived microproteins as a new approach to the prevention and treatment of aging-related diseases.” Currently, no treatment can slow the progression of Parkinson’s disease.
