Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
We analysed the distribution of mutant mitochondrial DNA (mtDNA) with A-to-G substitution mutation of tRNA(Leu)(UUR) in various autopsied tissues from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). There was no significant difference in the proportion (76-86%) of mutant mtDNA in many tissues, except in the lung and spleen. Unequal partitioning of mtDNA in somatic cells appears less prominent than that in germ cells.
Shoji
Y
Y
Department of Pediatrics, Akita University School of Medicine, Japan.
Sato
W
W
Hayasaka
K
K
Takada
G
G
D000328:Adult; D001483:Base Sequence; D015139:Blotting, Southern; D004272:DNA, Mitochondrial / Q000378:metabolism*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation
D004272:DNA, Mitochondrial