Mitochondrial respiratory dysfunction in familiar Parkinsonism associated with PINK1 mutation

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

Research output: Contribution to journalArticlepeer-review


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 H 2O2 production abrogated by inhibition of complex I. No change in the glutathione-based redox buffering was, however, observed.

Original languageEnglish
Pages (from-to)2565-2574
Number of pages10
JournalNeurochemical Research
Issue number12
Publication statusPublished - Dec 2008


  • Cytochrome c
  • Mitochondria
  • Oxidative phosphorylation
  • Parkinson disease
  • PINK1
  • Reactive oxygen species

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Biochemistry


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