Parkinson’s disease researchers say they’ve discovered a genetic mutation in a small protein that might produce recent treatments for the degenerative brain disorder.
The relatively rare variant is primarily present in people of European descent — those that have it are half as more likely to develop the disease.
“Our data highlights the biological effects of a specific gene variant and the potential molecular mechanisms by which this mutation may reduce the danger for Parkinson’s disease,” said first study creator Su-Jeong Kim, an adjunct research assistant professor of gerontology on the University of Southern California.
The study findings were published last week within the journal Molecular Psychiatry.
Nearly 1 million Americans have Parkinson’s disease — a number that is predicted to grow to 1.2 million by 2030, in line with the Parkinson’s Foundation.
Ozzy Osbourne, Michael J. Fox, and Neil Diamond are among the many celebrities who’ve shared their Parkinson’s diagnoses.
The disease affects how people control their bodies, with symptoms including slow movement, tremors, stiffness, and difficulty walking.
While studying the progressive disorder, a USC researcher in 2016 discovered SHLP2, a mitochondrial-derived peptide (MDP).
Mitochondria produce the energy needed to power the body’s cells — aging is related to a decline in mitochondrial function.
MDPs have been shown to play a task in maintaining mitochondrial activity under pressure.
Scientists have noted that levels of SHLP2, specifically, rise with the onset of Parkinson’s.
But, because the disease progresses, most patients cannot produce more SHLP2.
While screening 1000’s of individuals, researchers identified a highly protective SHLP2 variant present in 1% of Europeans that cuts the danger of developing Parkinson’s disease in half.
The SHLP2 variant is alleged to supply higher protection against mitochondrial dysfunction.
Senior study creator Pinchas Cohen said the invention “underscores the relevance of exploring mitochondrial-derived microproteins as a recent approach to the prevention and treatment of diseases of aging.”
The advantages of the mutant type of SHLP2 were observed in human tissue samples and lab mice.
“These findings may guide the event of therapies and supply a roadmap for understanding other mutations present in mitochondrial microproteins,” Kim said.