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 journalArticle

139 Citations (Scopus)

Abstract

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
Pages (from-to)359-367
Number of pages9
JournalNature Genetics
Volume1
Issue number5
StatePublished - Dec 1 1992
Externally publishedYes

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Mitochondrial DNA
Mitochondrial Genome
Pathology
Muscles
Cytochrome-c Oxidase Deficiency
Kearns-Sayre Syndrome
Mitochondrial Encephalomyopathies
Muscular Diseases
Electron Transport
Oxidoreductases
Skeletal Muscle
Peptides
Population

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E. A., & Bonilla, E. (1992). Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nature Genetics, 1(5), 359-367.

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. / Moraes, Carlos T; Ricci, Enzo; Petruzzella, Vittoria; Shanske, Sara; DiMauro, Salvatore; Schon, Eric A.; Bonilla, Eduardo.

In: Nature Genetics, Vol. 1, No. 5, 01.12.1992, p. 359-367.

Research output: Contribution to journalArticle

Moraes, CT, Ricci, E, Petruzzella, V, Shanske, S, DiMauro, S, Schon, EA & Bonilla, E 1992, 'Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions', Nature Genetics, vol. 1, no. 5, pp. 359-367.
Moraes CT, Ricci E, Petruzzella V, Shanske S, DiMauro S, Schon EA et al. Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nature Genetics. 1992 Dec 1;1(5):359-367.
Moraes, Carlos T ; Ricci, Enzo ; Petruzzella, Vittoria ; Shanske, Sara ; DiMauro, Salvatore ; Schon, Eric A. ; Bonilla, Eduardo. / Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. In: Nature Genetics. 1992 ; Vol. 1, No. 5. pp. 359-367.
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