Genetic causes of mitochondrial DNA depletion in humans

Agnès Rötig , Joanna Poulton

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.

Mots clés: Mitochondria; mtDNA depletion; respiratory chain

Agnès Rötig, Joanna Poulton. Genetic causes of mitochondrial DNA depletion in humans. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2009, 1792 (12), pp.1103. ⟨10.1016/j.bbadis.2009.06.009⟩. ⟨hal-00537253⟩