Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk

A. Spinazzola, M. Zeviani

Research output: Contribution to journalArticlepeer-review


In the course of evolution, mitochondria lost their independence, and mitochondrial DNA (mtDNA) became the 'slave' of nuclear DNA, depending on numerous nucleus-encoded factors for its integrity, replication and expression. Mutations in any of these factors may alter the cross-talk between the two genomes and cause Mendelian disorders characterized by qualitative (multiple deletions) or quantitative (depletion) alterations of mtDNA, or by defective translation of mtDNA-encoded respiratory chain components.

Original languageEnglish
Pages (from-to)174-192
Number of pages19
JournalJournal of Internal Medicine
Issue number2
Publication statusPublished - Feb 2009


  • Mitochondrial disorders
  • Mitochondrial DNA
  • mtDNA depletion
  • mtDNA multiple deletions
  • Oxidative phosphorylation

ASJC Scopus subject areas

  • Internal Medicine


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