Genetic causes of mitochondrial DNA depletion in humans

[摘要] Mitochondrial DNA (mtDNA) depletion is characterized by a profound reduction of mtDNA copy number. The maintenance of mtDNA copy number requires several nuclear-encoded factors involved in replication and in dNTP supply. In the past decade mutations in several of these factors have been reported in a growing number of syndromes. This article reviews the current knowledge of genes causing mitochondrial DNA depletion syndromes. (C) 2009 Published by Elsevier B.V.

[发布日期] 2009-12-01

[关键词] Mitochondria;mtDNA depletion;Respiratory chain