Disorders of nuclear-mitochondrial intergenomic signalling

Massimo Zeviani, Vittoria Petruzzella, Rosalba Carrozzo

Research output: Contribution to journalArticlepeer-review


In addition to sporadic or maternally-inherited mutations of the mitochondrial genome, abnormalities of mtDNA can be transmitted as mendelian traits. The latter are believed to be caused by mutations in still unknown nuclear genes, which deleteriously interact with the mitochondrial genome. Two groups of mtDNA-related mendelian disorders are known: those associated with mtDNA large-scale rearrangements and those characterized by severe reduction of the mtDNA copy number. The most frequent presentation of the first group of disorders is an adult-onset encephalomyopathy, defined clinically by the syndrome of progressive external ophthalmoplegia 'plus,' genetically by autosomal dominant transmission of the trait, and molecularly by the presence of multiple deletions of mtDNA. The second group of disorders comprises early-onset, organ-specific syndromes, associated with mtDNA depletion, that are presumably transmitted as autosomal recessive traits. Linkage analysis and search for candidate genes are two complementary strategies to clarify the molecular basis of these disorders of the nuclear- mitochondrial intergenomic signalling.

Original languageEnglish
Pages (from-to)121-130
Number of pages10
JournalJournal of Bioenergetics and Biomembranes
Issue number2
Publication statusPublished - 1997


  • Maternal inheritance
  • Mitochondrial disorders
  • Mitochondrial replication
  • mtDNA
  • mtDNA depletion
  • Multiple mtDNA deletions
  • Oxidative phosphorylation
  • PEO
  • Respiratory chain

ASJC Scopus subject areas

  • Cell Biology
  • Physiology


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