Biochemical analysis of cybrids expressing mitochondrial DNA from Contursi kindred Parkinson's subjects

Exp Neurol. 2001 Jun;169(2):479-85. doi: 10.1006/exnr.2001.7674.


Complex I activity is reduced in cytoplasmic hybrid (cybrid) cell lines that contain mitochondrial DNA (mtDNA) from sporadic Parkinson's disease (PD) patients. This implies that mtDNA aberration occurs in sporadic PD. To assess the integrity of mtDNA in autosomal dominant PD arising from mutation of the alpha-synuclein gene, we transferred mitochondrial genes from PD-affected members of the Italian-American Contursi kindred to cells previously depleted of their endogenous mtDNA. Unlike cybrid cell lines expressing mtDNA from persons with sporadic or maternally inherited PD, the resultant Contursi cybrid lines did not manifest complex I deficiency, indicating that in Contursi PD mtDNA integrity is relatively preserved. Compared to control cybrids, however, Contursi cybrid lines did show some evidence of oxidative stress. For reasons that are unclear, at least a limited amount of mtDNA damage may nevertheless develop in PD patients with alpha-synuclein mutation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aged
  • Blood Platelets / metabolism
  • Blood Platelets / ultrastructure
  • Catalase / metabolism
  • DNA, Mitochondrial / blood
  • DNA, Mitochondrial / genetics*
  • Electron Transport
  • Electron Transport Complex I
  • Electron Transport Complex IV / genetics
  • Electron Transport Complex IV / metabolism
  • Female
  • Genes, Dominant
  • Glutathione Peroxidase / metabolism
  • Glutathione Reductase / metabolism
  • Humans
  • Hybrid Cells / metabolism
  • Male
  • Middle Aged
  • NADH, NADPH Oxidoreductases / genetics*
  • NADH, NADPH Oxidoreductases / metabolism
  • Neuroblastoma
  • Parkinson Disease / genetics*
  • Reference Values
  • Tumor Cells, Cultured


  • DNA, Mitochondrial
  • Catalase
  • Glutathione Peroxidase
  • NADH, NADPH Oxidoreductases
  • Glutathione Reductase
  • Electron Transport Complex IV
  • Electron Transport Complex I