Mitochondrial Respiratory Dysfunction in Familiar Parkinsonism Associated with PINK1 Mutation |
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| Authors: | Claudia Piccoli Annamaria Sardanelli Rosella Scrima Maria Ripoli Giovanni Quarato Annamaria D’Aprile Francesco Bellomo Salvatore Scacco Giuseppe De Michele Alessandro Filla Arcangela Iuso Domenico Boffoli Nazzareno Capitanio Sergio Papa |
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| Affiliation: | (1) Department of Biomedical Sciences, University of Foggia, Foggia, Italy;(2) Department of Medical Biochemistry, Biology and Physics, University of Bari, Piazza G. Cesare, 70100 Bari, Italy;(3) Department of Neurological Sciences, Federico II University, Naples, Italy;(4) Institute of Biomembranes and Bioenergetics, Italian Research Council, Bari, Italy |
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| 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 O2•− and H2O2 production abrogated by inhibition of complex I. No change in the glutathione-based redox buffering was, however, observed. Special issue article in honor of Anna Maria Giuffrida-Stella. |
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| Keywords: | Parkinson disease PINK1 Mitochondria Oxidative phosphorylation Reactive oxygen species Cytochrome c |
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