[The correlation of the heteroplasmy of mtDNA and clinicopathological findings in the patients with mitochondrial encephalomyopathies].
In most cases of the mitochondrial encephalomyopathies, the mutations of mtDNA usually appear in heteroplasmic states. The degree of mtDNA heteroplasmy has been suggested to play an important role in determining the clinical phenotype and the organ-specific defects. We had devised a novel method for quantitative analysis of heteroplasmy using PCR-SSCP, this method is useful to accurately quantitate heteroplasmy of very small amount of samples. Using this method, we analyzed the heteroplasmy of skeletal muscle or leucocyte from 12 cases of MERRF and 5 cases of MELAS. And we analyzed autopsied cases (2 MERRF and 2 MELAS patients), and the cellular or organellar distributions of heteroplasmy of CNS in MERRF patients, and discussed the correlation of heteroplasmy of mtDNA and clinicopathological findings.
Tanno
Y
Y
Tanaka
K
K
Tsuji
S
S
D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D017243:MERRF Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism; D009154:Mutation; D009928:Organ Specificity / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction
D004272:DNA, Mitochondrial