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Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS)
Author(s) -
Shoji Y.,
Sato W.,
Hayasaka K.,
Takada G.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711311
Subject(s) - mitochondrial myopathy , lactic acidosis , melas syndrome , mitochondrial dna , encephalopathy , myopathy , medicine , acidosis , stroke (engine) , biology , pathology , endocrinology , genetics , gene , mechanical engineering , engineering
Summary 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.