Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts.

ABSTRACT:

Background

Mutations in Parkin are the most common cause of autosomal recessive Parkinson disease (PD). The mitochondrially localized E3 ubiquitin-protein ligase Parkin has been reported to be involved in respiratory chain function and mitochondrial dynamics. More recent publications also described a link between Parkin and mitophagy.

Methodology/principal findings

In this study, we investigated the impact of Parkin mutations on mitochondrial function and morphology in a human cellular model. Fibroblasts were obtained from three members of an Italian PD family with two mutations in Parkin (homozygous c.1072delT, homozygous delEx7, compound-heterozygous c.1072delT/delEx7), as well as from two relatives without mutations. Furthermore, three unrelated compound-heterozygous pati

SUBMITTER: Grunewald A 

PROVIDER: S-EPMC2946349 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature