Mitochondrial DNA depletion in human pathology

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations


Several human disorders have been recently associated with alterations of mitochondrial DNA (mtDNA). Although most of these alterations are qualitative in nature (eg, deletions or point mutations), recent reports indicated that quantitative defects of mtDNA can also cause a metabolic dysfunction. Severe mtDNA depletion has been observed in muscle, liver or kidney of infants with fatal mitochondrial disorders. The molecular basis for the mtDNA depletion in these naturally occurring disorders remains unknown. A marked decrease of mtDNA has also been associated with AZT-induced myopathies. In these patients the mtDNA depletion can be attributed to the inhibitory effects of AZT on the mitochondrial DNA polymerase.

Original languageEnglish (US)
Pages (from-to)40-44
Number of pages5
JournalInternational Pediatrics
Issue number1
StatePublished - Jan 1 1993
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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