Genetic Breakthrough Protein Mutation Shields Against Parkinson's Risk

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

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

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

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

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

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

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

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

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

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

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