Rare mutation found that cuts the risk of developing Parkinson’s disease in half

Rare mutation found that cuts the risk of developing Parkinson’s disease in half

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Parkinson’s disease researchers say they have discovered a genetic mutation in a small protein that could yield new treatments for the degenerative brain disorder.

The relatively rare variant is found primarily in people of European descent – ​​those who have it are half as likely to develop the disease.

“Our data highlight the biological effects of a specific genetic variant and the potential molecular mechanisms by which this mutation may reduce the risk of developing Parkinson’s disease,” said first study author So Jeong Kim, an adjunct research assistant professor of gerontology at UCLA. Southern California.

The results of the study were published last week in the journal Molecular Psychiatry.

Nearly 1 million Americans have Parkinson’s disease, a number that is expected to rise to 1.2 million by 2030, according to the Parkinson’s Foundation.

Mitochondria produce the energy needed to operate the body’s cells, and aging is associated with a decline in mitochondrial function. Timonina – Stock.adobe.com

Ozzy Osbourne, Michael J. Fox and Neil Diamond are among the celebrities who have shared their Parkinson’s diagnosis.

The disease affects how people control their bodies, and symptoms include slowness of movement, tremors, stiffness, and difficulty walking.

While studying the progressive disorder, a USC researcher in 2016 discovered SHLP2, a mitochondria-derived peptide (MDP).

Mitochondria produce the energy needed to operate the body’s cells, and aging is associated with a decline in mitochondrial function.

MDPs have been shown to play a role in maintaining mitochondrial activity under stress.

Nearly 1 million Americans have Parkinson’s disease, a number that is expected to rise to 1.2 million by 2030, according to the Parkinson’s Foundation. Lightfield Studios – Stock.adobe.com
Ozzy Osbourne, pictured here on November 14, 2023, was diagnosed with Parkinson’s disease in 2003. He shared the diagnosis publicly in 2020. Photography by Clint Brewer/AIM/BACKGRID

Scientists have observed that levels of SHLP2, specifically, rise with the onset of Parkinson’s disease.

But as the disease progresses, most patients cannot produce more SHLP2.

While screening thousands of people, researchers identified a highly protective SHLP2 variant found in 1% of Europeans that cuts the risk of developing Parkinson’s disease in half.

The SHLP2 variant is said to provide better protection against mitochondrial dysfunction.

The study’s senior author, Pinchas Cohen, said the discovery “underscores the importance of exploring mitochondrial-derived microproteins as a new approach to preventing and treating diseases of aging.”

Researchers have identified a highly protective SHLP2 variant found in 1% of Europeans that cuts the risk of developing Parkinson’s disease in half. Wikipedia

The benefits of the mutant form of SHLP2 have been observed in human tissue samples and laboratory mice.

“These findings may guide the development of therapeutics and provide a roadmap for understanding other mutations found in mitochondrial microproteins,” Kim said.




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