Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease

Ann Neurol. 1998 Aug;44(2):177-86. doi: 10.1002/ana.410440207.

Abstract

Several groups have identified mitochondrial complex I deficiency in Parkinson's disease (PD) substantia nigra and in platelets. A search for any mitochondrial DNA (mtDNA) mutation underlying this defect has not yet produced any consistent result. We have made use of a mtDNA-less (p0) cell line to determine if the complex I deficiency follows the genomic transplantation of platelet mtDNA. From a preselected group of PD patients with low platelet complex I activity, 7 patients were used for detailed study. All 7 patients were used for mixed cybrid analysis and demonstrated a selective 25% deficiency of complex I activity. Individual clonal analysis of A549 p0/PD platelet fusion cybrids from 1 of the patients expressed combined complex I and IV deficiencies with 25% and 20% decreased activities in the PD clones, respectively. Histocytochemical, immunocytochemical, and cellular functional imaging studies of these clones showed the cells within the clones were heterogeneous with respect to cytochrome c oxidase (COX) function, COX I content, and mitochondrial respiratory chain activity. These results are in agreement with a previous study and support the proposition that an mtDNA abnormality may underlie the mitochondrial defect in at least a proportion of PD patients. This p0 technology may serve as a means to identify the subgroup of PD patients in whom an mtDNA defect may contribute to development of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Benzimidazoles / analysis
  • Blood Platelets / metabolism*
  • Carbocyanines / analysis
  • Clone Cells / metabolism
  • DNA, Mitochondrial / genetics*
  • Electron Transport
  • Fluorescent Dyes / analysis
  • Humans
  • Immunohistochemistry
  • Mitochondria / genetics
  • Mitochondria / metabolism*
  • Mutation
  • Parkinson Disease / genetics*
  • Platelet Membrane Glycoproteins / metabolism
  • Polymerase Chain Reaction

Substances

  • Benzimidazoles
  • Carbocyanines
  • DNA, Mitochondrial
  • Fluorescent Dyes
  • Platelet Membrane Glycoproteins
  • 5,5',6,6'-tetrachloro-1,1',3,3'-tetraethylbenzimidazolocarbocyanine