Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

Carlos T. Moraes, Enzo Ricci, Vittoria Petruzzella, Sara Shanske, Salvatore DiMauro, Eric A. Schon, Eduardo Bonilla

Research output: Contribution to journalArticlepeer-review

142 Scopus citations


Large-scale deletions of mitochondrial DNA (mtDNA) are associated with a subgroup of mitochondrial encephalomyopathies. We studied seven patients with Kearns-Sayre syndrome or isolated ocular myopathy who harboured a sub-population of partially-deleted mitochondrial genomes in skeletal muscle. Variable cytochrome c oxidase (COX) deficiencies and reduction of mitochondrially-encoded polypeptides were found in affected muscle fibres, but while many COX-deficient fibres had increased levels of mutant mtDNA, they almost invariably had reduced levels of normal mtDNA. Our results suggest that a specific ratio between mutant and wild-type mitochondrial genomes is the most important determinant of a focal respiratory chain deficiency, even though absolute copy numbers may vary widely.

Original languageEnglish (US)
Pages (from-to)359-367
Number of pages9
JournalNature genetics
Issue number5
StatePublished - Aug 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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