Nuclear genes in mitochondrial disorders.
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.
Zeviani
Massimo
M
Division of Molecular Neurogenetics, National Neurological Institute 'Carlo Besta', via Temolo 4, 20126 Milan, Italy. zeviani@tin.it
Spinazzola
Antonella
A
Carelli
Valerio
V
D002467:Cell Nucleus / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*; D010085:Oxidative Phosphorylation; D012441:Saccharomyces cerevisiae / Q000235:genetics / Q000378:metabolism; D014451:Ubiquinone / Q000172:deficiency
D014451:Ubiquinone