Mutation halves Parkinson’s risk

Scientists have found a genetic mutation that provides protection against Parkinson’s disease, it was announced last night.

The mutation is found in a mitochondrial protein and is “highly protective”, US researchers said.

They found that having it halves the risk of developing the disease – but the variant is quite rare and mostly found in people of European descent, affecting about 1% of this population.

The protein is SHLP2, researchers reported in Molecular Psychiatry.

The mutation is a single letter of the genetic code and leads to an increased expression of the protein and makes it more stable, they report. They report that the protein binds to a mitochondrial enzyme, complex 1, which is essential for life and has been linked to Parkinson’s and cardiovascular disease when it declines.

Researcher Su-Jeong Kim, an adjunct research assistant professor of gerontology at the University of Southern California Leonard Davis School, said: “Our data highlights the biological effects of a particular gene variant and the potential molecular mechanisms by which this mutation may reduce the risk for Parkinson’s disease.

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

Fellow researcher Professor Pinchas Cohen said: “This study advances our understanding of why people might get Parkinson’s and how we might develop new therapies for this devastating disease.

“Also, because most research is done on well-established protein-coding genes in the nucleus, it underscores the relevance of exploring mitochondrial-derived microproteins as a new approach to the prevention and treatment of diseases of ageing.”

Molecular Psychiatry 2 January 2024


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