Scientists at Emory University have discovered how genetic mutations recently identified in Parkinson’s disease affect a signaling pathway in cells.
The Emory investigators found that the mitochondrial protein PINK1 normally protects cells from oxidative stress and promotes cell survival by regulating the protein TRAP1. When PINK1 is mutated, the protective TRAP1 pathway is disrupted, leading to mitochondrial damage.
Previously, other scientists linked early onset of Parkinson’s to mutations in both copies of the PINK1 gene and single-copy mutations to later-onset of the disease.
The study was published in the June 18 edition of PLoS Biology.