Neurochemical Research

, 33:2565

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
Original Paper

DOI: 10.1007/s11064-008-9729-2

Cite this article as:
Piccoli, C., Sardanelli, A., Scrima, R. et al. Neurochem Res (2008) 33: 2565. doi:10.1007/s11064-008-9729-2
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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.

Keywords

Parkinson diseasePINK1MitochondriaOxidative phosphorylationReactive oxygen speciesCytochrome c

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Claudia Piccoli
    • 1
  • Annamaria Sardanelli
    • 2
  • Rosella Scrima
    • 1
  • Maria Ripoli
    • 1
  • Giovanni Quarato
    • 1
  • Annamaria D’Aprile
    • 1
  • Francesco Bellomo
    • 2
  • Salvatore Scacco
    • 2
  • Giuseppe De Michele
    • 3
  • Alessandro Filla
    • 3
  • Arcangela Iuso
    • 2
  • Domenico Boffoli
    • 1
  • Nazzareno Capitanio
    • 1
  • Sergio Papa
    • 2
    • 4
  1. 1.Department of Biomedical SciencesUniversity of FoggiaFoggiaItaly
  2. 2.Department of Medical Biochemistry, Biology and PhysicsUniversity of BariBariItaly
  3. 3.Department of Neurological SciencesFederico II UniversityNaplesItaly
  4. 4.Institute of Biomembranes and BioenergeticsItalian Research CouncilBariItaly