| Literature DB >> 14995902 |
Rolf J R J Janssen1, Lambert P van den Heuvel, Jan A M Smeitink.
Abstract
The oxidative phosphorylation (OXPHOS) system consists of five multiprotein complexes and two mobile electron carriers embedded in the lipid bilayer of the mitochondrial inner membrane. With the exception of complex II and the mobile carriers, the other parts of the OXPHOS system are under dual genetic control. Due to this bigenomic control, the inheritance of OXPHOS system defects is either maternal, in the case of mitochondrial DNA mutations, autosomal or X-linked, in the case of nuclear gene defects. In this review, our current genetic understanding of OXPHOS system enzyme deficiencies will be summarized, and future directions that the field might take to unravel so-far genetically unresolved OXPHOS system enzyme deficiencies will be described, with special emphasis on complex I biogenesis. Copyright Future Drugs Ltd.Entities:
Mesh：
Substances：
Year: 2004 PMID： 14995902 DOI： 10.1586/14737159.4.2.143
Source DB: PubMed Journal: Expert Rev Mol Diagn ISSN： 1473-7159 Impact factor: 5.225