The expanding spectrum of nuclear gene mutations in mitochondrial disorders |
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Authors: | Massimo Zeviani |
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Institution: | Division of Biochemistry and Genetics, Carlo Besta National Neurological Institute, via Celoria 11, 20133 Milan, Italy. zeviani@tin.it |
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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. |
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Keywords: | mitochondria / nuclear DNA / mutation / oxidative-phosphorylation / respiratory chain |
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