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Neurochem Res. 2008 Dec;33(12):2565-74. doi: 10.1007/s11064-008-9729-2. Epub 2008 May 13.

Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.

Author information

1
Department of Biomedical Sciences, University of Foggia, Foggia, Italy.

Abstract

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)(*-) and H(2)O(2) production abrogated by inhibition of complex I. No change in the glutathione-based redox buffering was, however, observed.

PMID:
18473170
DOI:
10.1007/s11064-008-9729-2
[Indexed for MEDLINE]

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