Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation.
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.
Saitoh
S
S
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Momoi
M Y
MY
Yamagata
T
T
Nakauchi
H
H
Nihei
K
K
Fujii
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D004272:DNA, Mitochondrial / Q000032:analysis*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes; D008297:Male; D009154:Mutation; D012356:RNA, Transfer, Leu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu