Genetic Breakthrough Protein Mutation Shields Against Parkinson's Risk

USC Leonard Davis School's study unveils a rare genetic mutation in the mitochondrial microprotein SHLP2

The mutation, found in only 1% of people of European ancestry, makes individuals 50% less likely to develop Parkinson's disease

SHLP2, a crucial mitochondrial microprotein, plays a key role in preserving mitochondrial function—a pivotal factor in Parkinson's development

The study, led by USC professor Pinchas Cohen, sheds light on the molecular mechanisms of Parkinson's disease

Su-Jeong Kim's research identifies the protective SHLP2 mutation through large-scale genetic analysis

The mutation results in a more stable structure of SHLP2, preventing mitochondrial dysfunction associated with Parkinson's

SHLP2 binds to mitochondrial complex 1, a key enzyme generating energy, preserving its activity and hindering Parkinson's progression

Positive effects observed in both human tissue samples and mouse models suggest a potential breakthrough in Parkinson's therapy

The study marks a milestone in longevity science, precision health, and microprotein discovery

Researchers hope these findings pave the way for new therapies targeting mitochondrial microproteins in aging-related disorders