06 January 2024 , 17:47
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Researchers have identified a previously unknown genetic mutation that provides significant protection against Parkinson's and could produce new medical treatments for the debilitating condition.
The previously unidentified mutation in small protein is rare and generally found in people of European descent but can halve the chances of developing the disease. The variant, located in a mitochondrial microprotein dubbed SHLP2, was found in a previous study to be associated with protection from ageing-related diseases, including cancer.
The condition affects around 153,000 people in the UK and sufferers have stiffness and slowness in their limbs along with tremors. The latest study from the USC Leonard Davis School of Gerontology and published in the journal Molecular Psychiatry last year, showed levels of SHLP2 rise with the onset of Parkinson's. Professor Pinchas Cohen, senior author of the study, says he is excited by the findings.
He said: "This discovery opens exciting new directions for developing precision medicine-based therapies for Alzheimer's disease. It advances our understanding of why people might get Parkinson's and how we might develop new therapies for this devastating disease. It underscores the relevance of exploring mitochondrial-derived microproteins as a new approach to the prevention and treatment of diseases of ageing."
It could produce new treatments for the condition, medics suggest (Getty Images)By comparing genetic variants in the mitochondrial DNA in patients with Parkinson's disease and in controls, researchers found a highly protective variant found in one per cent of Europeans, that reduced risk of Parkinson’s disease by half. The benefits of the mutant form of SHLP2 were observed in both in vitro experiments in human tissue samples as well as in mouse models of Parkinson’s disease, according to the study.
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Co-author and assistant Professor Su-Jeong Kim 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.”
Brendan Miller, a PhD in neuroscience graduate and first author of the study, continued: "The field of microproteins is still so new. We don't yet know how many microprotein genes are even functional, and the cost to study a potential microprotein one-by-one from a list of thousands is just too expensive and inefficient. The approach my colleagues and I used to detect SHMOOSE shows the power of integrating big genetics data with molecular and biochemical techniques to discover functional microproteins."