Genetic causes of mitochondrial DNA depletion in humans.
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.
Rötig
Agnès
A
INSERM U781, Hôpital Necker-Enfants Malades, Université René Descartes Paris V, 149 rue de Sèvres, 75015 Paris, France. agnes.rotig@inserm.fr
Poulton
Joanna
J
D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics*
D004272:DNA, Mitochondrial