Disorders Associated with Depletion of Mitochondrial DNA

Enzo Ricci, Carlos T. Moraes, Serenella Servidei, Pietro Tonali, Eduardo Bonilla, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA-encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fibers.

Original languageEnglish (US)
Pages (from-to)141-147
Number of pages7
JournalBrain Pathology
Issue number2
StatePublished - Apr 1992
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology


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