Evidence for a role of the Bcl-2 family in the pathophysiology of Parkin-associated parkinsonism using a human fibroblast model

Parkinson's disease (PD) is a primarily sporadically occurring neurodegenerative disorder of advanced age. In the last few years several genes have been identified, including Parkin, coding for an E3 ligase involved in proteasomal protein degradation. Recent findings implicate oxidative damage and apoptosis as key molecular mechanisms of both sporadic and familial PD. To characterize the possible role of molecular mechanisms in samples originating from patients with monogenic PD, we employed human skin fibroblasts from 8 Parkin mutation carriers (2 homozygous: delEx7, 1072Tdel and 1 compound heterozygous delEx7+…