Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1086/430843

Type

Journal article

Journal

American journal of human genetics

Publication Date

06/2005

Volume

76

Pages

1081 - 1086

Addresses

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

Keywords

Chromosomes, Human, Pair 13, Humans, Mitochondrial Encephalomyopathies, Mitochondrial Diseases, Succinate-CoA Ligases, DNA, Mitochondrial, Deoxyribonucleotides, Genetic Markers, Chromosome Mapping, Pedigree, Sequence Analysis, DNA, Gene Deletion, Base Sequence, Microsatellite Repeats, Homozygote, Mutation, Alleles, Genome, Human, Introns, Exons