Abstract
The melanocortin 1 receptor gene (MC1R) is a key regulator of pigmentation. Loss-of-function MC1R variants (“R”) have been strongly associated with the red hair color phenotype and increased melanoma risk. We identified that skin cells harboring “R” MC1R variants show deregulation of the genes involved in pathways related to neurodegenerative diseases such as PD. Interestingly, multiple epidemiological studies have identified an association between melanoma and PD. We found that the p.R160W MC1R variant is associated with PD risk in the Spanish population, and the p.R151C variant had been previously associated with PD risk in the North American population. Both alleles are “R” variants and present the highest attributable risk of melanoma. Recently, a functional study carried out in red hair mice showed loss of nigral dopaminergic neurons, reduction of striatal dopamine levels, and impairment of locomotor activity in basal conditions. Altogether, the results indicate that MC1R is involved in PD etiology.
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