|Title||The expanding spectrum of nuclear gene mutations in mitochondrial disorders.|
|Publication Type||Journal Article|
|Year of Publication||2001|
|Journal||Semin Cell Dev Biol|
|Date Published||2001 Dec|
|Keywords||Animals, Child, DNA, Mitochondrial, Humans, Infant, Mice, Mitochondrial Diseases, Models, Animal, Mutation, Neurodegenerative Diseases, Oxidative Phosphorylation|
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.
|Alternate Journal||Semin. Cell Dev. Biol.|