Mitochondrial disorders of the nuclear genome

C. Angelini, L. Bello, M. Spinazzi, C. Ferrati

Research output: Contribution to journalArticlepeer-review


Background. Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. Results. Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. Conclusions. Future developments will show that many neurodegenerative disorders are due to mutations of nuclear genes controlling mitochondrial function, fusion and fission.

Original languageEnglish
Pages (from-to)16-23
Number of pages8
JournalActa Myologica
Issue number1
Publication statusPublished - 2009


  • Ataxia
  • Optic atrophy
  • SURF1

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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