期刊
MOLECULAR ASPECTS OF MEDICINE
卷 23, 期 5, 页码 385-412出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/S0098-2997(02)00013-4
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资金
- Russian Fund for Basic Research
- International Association for the promotion of cooperation with scientists from the NewIndep endent States of the former Soviet Union (Fellowship Grant for Young Scientists) [01/1-0015]
Here, relationships between alterations in tissue-specific content, protein structure, activity, and/or assembly of respiratory complexes III and IV induced by mutations in corresponding genes and various human pathologies are reviewed. Cytochrome bc(1) complex and cytochrome c oxidase (COX) deficiencies have been detected in a heterogeneous group of neuromuscular and non-neuromuscular diseases in childhood and adulthood, presenting a number of clinical phenotypes of variable severity. Such disorders can be caused by mutations located either in mitochondrial genes or in nuclear genes encoding structural subunits of the complexes or corresponding assembly factors/chaperones. Of the defects in mitochondrial DNA genes, mutations in cytochrome b subunit of complex III, and in structural subunits I-III of COX have been described to date. As to defects in nuclear DNA genes, mutations in genes encoding the complexes assembly factors such as the BCS1L protein for complex III; and SURF-1, SCO1, SCO2, and COX10 for complex IV have been identified so far. (C) 2002 Elsevier Science Ltd. All rights reserved.
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