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.
Original language | English |
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Pages (from-to) | 407-416 |
Number of pages | 10 |
Journal | Seminars in Cell and Developmental Biology |
Volume | 12 |
Issue number | 6 |
DOIs | |
Publication status | Published - 2001 |
Keywords
- Mitochondria
- Mutation
- Nuclear DNA
- Oxidative-phosphorylation
- Respiratory chain
ASJC Scopus subject areas
- Developmental Biology