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Am J Hum Genet. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Author information

  • 1Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel. Elpeleg@cc.huji.ac.il.

Abstract

The mitochondrial DNA (mtDNA) depletion syndrome is a quantitative defect of mtDNA resulting from dysfunction of one of several nuclear-encoded factors responsible for maintenance of mitochondrial deoxyribonucleoside triphosphate (dNTP) pools or replication of mtDNA. Markedly decreased succinyl-CoA synthetase activity due to a deleterious mutation in SUCLA2, the gene encoding the beta subunit of the ADP-forming succinyl-CoA synthetase ligase, was found in muscle mitochondria of patients with encephalomyopathy and mtDNA depletion. Succinyl-CoA synthetase is invariably in a complex with mitochondrial nucleotide diphosphate kinase; hence, we propose that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome.

PMID:
15877282
[PubMed - indexed for MEDLINE]
PMCID:
PMC1196446
Free PMC Article
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