Scientists Discover Rare Mutation That Halves Risk of Parkinson’s Disease


Scientists have discovered a rare mutation that may halve the risk of Parkinson’s disease.

The study from the USC Leonard Davis School of Gerontology, in California, published in the journal Molecular Psychiatry, discovered the rare variant in a microprotein named SHLP2.

Upon more analysis, they discovered that those who carry the mutation were much less likely to develop Parkinson’s, while those who did not carry it were much more likely to come down with the disease at some stage. However, the mutation is extremely rare and only found in those who have European descent.

Pinchas Cohen at the USC Leonard Davis School discovered the variant in 2016 and has since been looking into its strange links with Parkinson’s disease.

Parkinson’s is caused by a decline in nerve cells in a region of the brain that produces dopamine. The disease develops gradually with age and affects the nervous system, which can lead to tremors and slow movements. It mainly affects middle-aged and elderly people.

The research into this variant could open the door to new treatment options for the disease in the future.

“This study advances our understanding of why people might get Parkinson’s and how we might develop new therapies for this devastating disease,” said Cohen, who is a professor of gerontology, medicine and biological sciences as well as senior author of the study. “Also, because most research is done on well-established protein-coding genes in the nucleus, it underscores the relevance of exploring mitochondrial-derived microproteins as a new approach to the prevention and treatment of diseases of aging.”

A stock photo shows a person suffering from tremors due to Parkinson’s. Scientists have discovered that a rare variant has profound effects on the likelihood of developing the disease.
Chainarong Prasertthai/Getty

Experiments were initiated by the study’s first author Su-Jeong Kim, a research assistant professor of gerontology at the USC Leonard Davis School, to allow scientists to better understand this variant. Scientists screened thousands of participants known to carry the SHLP2 variant.

They found that those with the variant had a 50 percent less chance of developing the disease. They also found that it is only found in 1 percent of Europeans.

“Our data highlights the biological effects of a particular gene variant and the potential molecular mechanisms by which this mutation may reduce the risk for Parkinson’s disease,” said Kim. “These findings may guide the development of therapies and provide a roadmap for understanding other mutations found in mitochondrial microproteins.”

To put it simply, these scientists discovered that SHLP2 binds to an enzyme called mitochondrial complex 1. Declines in this enzyme have previously been linked to Parkinson’s and other health issues including heart attacks and strokes.

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