title: The expanding spectrum of nuclear gene mutations in mitochondrial disorders.
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.
authors.affiliation: Division of Biochemistry and Genetics, Carlo Besta National Neurological Institute, via Celoria 11, 20133 Milan, Italy. zeviani@tin.it
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D000818:Animals; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D006801:Humans; D007223:Infant; D051379:Mice; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism; D023421:Models, Animal; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics; D010085:Oxidative Phosphorylation
chemical_list: D004272:DNA, Mitochondrial