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Rare Genetic Mutation in SHLP2 Microprotein Halves Risk of Parkinson's Disease

The mutation, primarily found in people of European descent, enhances the stability of the microprotein and its protective effect against mitochondrial dysfunction, a key factor in Parkinson's disease.

Rare protein mutation shields against Parkinson’s disease, study finds
Parkinson's tremor
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Overview

  • A rare genetic mutation in a mitochondrial microprotein called SHLP2 has been found to provide significant protection against Parkinson's disease.
  • Individuals with this mutation, discovered by the USC Leonard Davis School of Gerontology, are half as likely to develop Parkinson's disease compared to those who do not carry it.
  • The mutation results in a change to the amino acid sequence and protein structure of SHLP2, making the microprotein more stable and providing enhanced protection against mitochondrial dysfunction, a key factor in the development of Parkinson's disease.
  • The SHLP2 variant specifically binds to an enzyme in mitochondria called mitochondrial complex 1, preventing the decline of the enzyme's activity and thus reducing mitochondrial dysfunction.
  • The findings may guide the development of new therapies for Parkinson's disease and provide a roadmap for understanding other mutations found in mitochondrial microproteins.