Nuclear genes in mitochondrial disorders

Massimo Zeviani, Antonella Spinazzola, Valerio Carelli

Research output: Contribution to journalArticlepeer-review


Nuclear genes encode hundreds of proteins involved in mitochondrial biogenesis and oxidative phosphorylation (OXPHOS). Nevertheless, the identification of nuclear genes responsible for OXPHOS-related disorders has proceeded at a much slower pace, compared with the discovery and characterization of mtDNA mutations. Reasons for such a gap include rarity of syndromes, genetic heterogeneity, and ignorance on this nuclear gene repertoire in humans. This scenario is changing rapidly, thanks to the discovery of several OXPHOS-related human genes, and to the identification in some of them of disease-associated mutations. In addition, new strategies - based on transcriptome and proteome analysis, and functional complementation assays - have been applied successfully to mitochondrial medicine.

Original languageEnglish
Pages (from-to)262-270
Number of pages9
JournalCurrent Opinion in Genetics and Development
Issue number3
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Genetics

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