Common genetic marker associated with faster Parkinson's disease progression
A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in the MC1R gene as markers of faster motor decline in people with Parkinson's disease (PD). The findings, published in JAMA Neurology, suggest that MC1R could help identify a large subgroup of patients at risk for more rapid disease progression and open a new avenue for drug…
A recent study conducted by researchers at the Mass General Brigham Neuroscience Institute has discovered that specific genetic variants in the MC1R gene are linked to a faster progression of Parkinson's disease (PD) symptoms. The findings, published in JAMA Neurology, indicate that these MC1R variants could serve as a marker for patients at risk of rapid disease deterioration, potentially guiding drug development and improving prognostic assessments.
MC1R variants were found in a significant portion of PD patients, particularly those of European descent, and were associated with a 27% to 63% increase in the rate of motor decline compared to noncarriers. The study replicated these results in an independent cohort, further supporting the association. Additionally, the MC1R gene, known for its role in hair and skin pigmentation, may also be a druggable target, with drugs that activate this pathway showing protective effects in PD models.
The research suggests that identifying MC1R loss-of-function variants could help stratify patients and inform the design of clinical trials for PD.
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