Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy

Biochem Biophys Res Commun. 1990 Aug 16;170(3):994-7. doi: 10.1016/0006-291x(90)90490-e.


Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described mutation at nucleotide position 11778 was present in 5 out of 12 families and heteroplasmic mitochondrial DNA was observed in 2 of these 5 families. A rapid shift in genotype was found in one of the families with heteroplasmy: the grandmother had 60 percent mitochondrial DNA mutated at nucleotide position 11778, the mother 55 percent, and the two sons at least 95 percent. These data indicate that the number of mitochondrial DNA molecules transmitted to the progeny passes a developmental bottleneck, as previously proposed to occur in bovine oogenesis.

MeSH terms

  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Female
  • Genotype
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Leukocytes / analysis*
  • Male
  • Mutation*
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics*
  • Time Factors


  • DNA, Mitochondrial