title: Mitochondrial disorders of the nuclear genome.
abstract: 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.
authors.affiliation: Department of Neurosciences, University of Padova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: L
authors.initials: L
authors.lastname: Bello
authors.forename: M
authors.initials: M
authors.lastname: Spinazzi
authors.forename: C
authors.initials: C
authors.lastname: Ferrati
mesh_terms: D002467:Cell Nucleus; D002648:Child; D004247:DNA / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D016678:Genome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D011451:Prostaglandin-Endoperoxide Synthases / Q000172:deficiency / Q000235:genetics; D014451:Ubiquinone / Q000235:genetics
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein; D014451:Ubiquinone; D004247:DNA; D011451:Prostaglandin-Endoperoxide Synthases; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human