Journal
NEUROCHEMICAL RESEARCH
Volume 33, Issue 12, Pages 2565-2574Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s11064-008-9729-2
Keywords
Parkinson disease; PINK1; Mitochondria; Oxidative phosphorylation; Reactive oxygen species; Cytochrome c
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Funding
- University of Bari
- University of Foggia
- Foundation of Cassa di Risparmio di Puglia
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In the present study mitochondrial respiratory function of fibroblasts from a patient affected by early-onset Parkinsonism carrying the homozygous W437X nonsense mutation in the PINK1 gene has been thoroughly characterized. When compared with normal fibroblasts, the patient's fibroblast mitochondria exhibited a lower respiratory activity and a decreased respiratory control ratio with cellular ATP supply relying mainly on enhanced glycolytic production. The quantity, specific activity and subunit pattern of the oxidative phosphorylation complexes were normal. However, a significant decrease of the cellular cytochrome c content was observed and this correlated with a reduced cytochrome c oxidase in situ-activity. Measurement of ROS revealed in mitochondria of the patient's fibroblasts enhanced O-2(center dot-) and H2O2 production abrogated by inhibition of complex I. No change in the glutathione-based redox buffering was, however, observed.
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