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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




Journal article


American journal of human genetics

Publication Date





1081 - 1086


Metabolic Disease Unit, Shaare-Zedek Medical Center, Jerusalem, Israel.


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