Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy

J Neurol Neurosurg Psychiatry. 1988 Aug;51(8):1075-7. doi: 10.1136/jnnp.51.8.1075.


In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and unaffected individuals in the same maternal line, and there was no evidence of major deletion of mt DNA in patients. This study provides no positive evidence of mitochondrial inheritance in Leber's optic atrophy but does not exclude it.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA, Mitochondrial / genetics*
  • Female
  • Genetic Carrier Screening
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Male
  • Mutation
  • Optic Atrophies, Hereditary / genetics*
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Restriction Mapping*
  • Risk Factors


  • DNA, Mitochondrial