Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation

J Inherit Metab Dis. 1999 Jun;22(5):608-14. doi: 10.1023/a:1005569711521.


We examined heteroplasmy of mutated mitochondrial DNA in single peripheral lymphocytes derived from 4 individuals carrying the nt 3243 A-to-G mutation, including two patients with MELAS, a patient with cardiomyopathy, deafness and diabetes mellitus, and the asymptomatic mother of one of the MELAS patients. In these subjects, all lymphocytes examined were heteroplasmic to different degrees, with a wider range of heteroplasmy evident in the symptomatic patients than in the healthy carrier.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • DNA, Mitochondrial / analysis*
  • Female
  • Heterozygote*
  • Humans
  • Lymphocytes
  • Male
  • Mutation*
  • RNA, Transfer, Leu / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Leu