Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy

Biochem Biophys Res Commun. 1988 Aug 15;154(3):1240-7. doi: 10.1016/0006-291x(88)90272-0.


Skeletal muscles from a mother and her daughter both with chronic progressive ophthalmoplegia were analyzed. Histological and biochemical analyses of their muscle samples showed typical features of this type of mitochondrial myopathy. Southern blot analysis revealed that, in both patients, there were two species of mitochondrial DNA (mtDNA): normal one and partially deleted one. The sizes of the deletion were different; the mutant mtDNAs from the mother and the daughter had about 2.5- and 5-kilobase deletions, respectively. The two mutant mtDNAs shared a common deleted region of 1.2-kilobase. However, both the start and the end of deletion were different between them, implying a novel mode of inheritance. This is the first report that the mutant mtDNA is responsible for the maternal inheritance of a human disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Chromosome Deletion*
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex IV / metabolism
  • Female
  • Genes
  • Humans
  • Male
  • Mitochondria, Muscle / metabolism
  • Muscular Diseases / enzymology
  • Muscular Diseases / genetics*
  • NADH Dehydrogenase / metabolism
  • Nucleic Acid Hybridization
  • Reference Values
  • Succinate Cytochrome c Oxidoreductase / metabolism


  • DNA, Mitochondrial
  • Succinate Cytochrome c Oxidoreductase
  • NADH Dehydrogenase
  • Electron Transport Complex IV