Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Nature genetics - 1 Jun 2007
Bourdon Alice, Minai Limor, Serre Valérie, Jais Jean-Philippe, Sarzi Emmanuelle, Aubert Sophie, Chrétien Dominique, de Lonlay Pascale, Paquis-Flucklinger Véronique, Arakawa Hirofumi, Nakamura Yusuke, Munnich Arnold, Rötig Agnès
Abstract excerpt
Mitochondrial DNA (mtDNA) depletion syndrome (MDS; MIM 251880) is a prevalent cause of oxidative phosphorylation disorders characterized by a reduction in mtDNA copy number. The hitherto recognized disease mechanisms alter either mtDNA replication (POLG (ref. 1)) or the salvage pathway of mitochondrial deoxyribonucleosides 5'-triphosphates (dNTPs) for mtDNA synthesis (DGUOK (ref. 2), TK2 (ref. 3) and SUCLA2 (ref....
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