The expanding spectrum of nuclear gene mutations in mitochondrial disorders

Massimo Zeviani

Research output: Contribution to journalArticle

Abstract

Our understanding of the molecular basis of mitochondrial disorders has come primarily from the discovery of an expanding number of mutations of mtDNA. However, a variety of recent observations indicate that many syndromes are due to abnormalities in nuclear genes related to oxidative-phosphorylation (OXPHOS). Nuclear genes encode hundreds of proteins involved in mitochondrial OXPHOS. Nevertheless, the identification of these genes has proceeded at a much slower pace, compared with the discovery and characterization of mtDNA mutations. This scenario is rapidly changing, thanks to the discovery of several OXPHOS-related human genes, and to the identification of mutations responsible for different clinical syndromes.

Original languageEnglish
Pages (from-to)407-416
Number of pages10
JournalSeminars in Cell and Developmental Biology
Volume12
Issue number6
DOIs
Publication statusPublished - 2001

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Keywords

  • Mitochondria
  • Mutation
  • Nuclear DNA
  • Oxidative-phosphorylation
  • Respiratory chain

ASJC Scopus subject areas

  • Developmental Biology

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