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Mitochondrial DNA mutations in mitochondrial encephalomyopathies (MERRF, MELAS). Satoshi HORAI 1 1Department of Human Genetics, National Institute of Genetics pp.967-975
Published Date 1992/12/10
DOI https://doi.org/10.11477/mf.1431900294
  • Abstract
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 Mitochondrial encephalomyopathies are usually divided into three distinct clinical subgroups: (1) chronic progressive external ophthalmoplegia (CPEO) including Kearns-Sayre syndrome; (2) myoclonus epilepsy associated with ragged-red fibers (MERRF); and (3) mitochondrial myopathy, encephalopathy, lactic acidosis and stoke-like syndrome (MELAS). Large deletions of human mitochondrial DNA (mt-DNA) give rise to CPEO including Kearns-Sayre syndrome. Recently, mtDNA abnormalities due to point mutations in mitochondrial tRNA genes have been demonstrated in MERRF as well as in MELAS.

 1) MERRF: In a sequence analysis of mtDNA from a Japanese patient with MERRF, 33 substitutions were identified. Among them, an A-to-G transition at nucleotide position 8344 in the tRNALys was commonly observed in two other MERRF patients. The mutated position is highly conserved between species during evolution. Therefore, the substitution was presumed to be a causal mutation for MERRF. To investigate whether a point mutation in the tRNA gene results in a deficiency in translation, Attardi and coworkers have developed novel approaches for mitochondria-mediated transformation of mtDNA-less human cells (ρ0 cells). As a result, a severe defect in mitochondrial protein synthesis and marked deficiencies in respiration and cytochrome c oxidase activity were observed in the transformants containing virtually pure mutant mtDNA, as compared to the parent of the ρ0 cells or to transformants containing exclusively wide-type mtDNA.


Copyright © 1992, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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