Genetic risk for Early Onslaught Parkinson’s upped by PINK1 variation

Single mutation in recessive gene increases risk of earlier onset Parkinson’s disease

“A collaboration of 32 researchers in seven countries, led by scientists at Mayo Clinic’s campus in Florida, has found a genetic mutation they say confers a risk for development of Parkinson’s disease earlier than usual.

The major study, published in Brain, is important because the risk comes from a single mutation in the PTEN-induced putative kinase 1 (PINK1) gene. Investigators had believed that this rare form of Parkinson’s developed only when a person inherited mutations in both PINK1 alleles (one from each parent).”

 You can download a copy of the original research article at this link: Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

 

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