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Article

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

American journal of human genetics - 1 Jun 2005

Elpeleg Orly, Miller Chaya, Hershkovitz Eli, Bitner-Glindzicz Maria, Bondi-Rubinstein Gili, Rahman Shamima, Pagnamenta Alistair, Eshhar Sharon, Saada Ann

Abstract excerpt

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...

Topics

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Chromosomes, Human, Pair 13
Deoxyribonucleotides
DNA, Mitochondrial
Gene Deletion
Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Diseases

Mitochondrial Encephalomyopathies

Source

Open in PubMed Open full text

Identifiers

PMID: 15877282
DOI: 10.1086/430843
PMCID: PMC1196446

Genes

SUCLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.PMID 15877282Read ↗

Novel mutation in SUCLA2 identified on sequencing analysis.Semantic proximity Read ↗

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The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.Semantic proximity Read ↗

Disorders caused by deficiency of succinate-CoA ligase.Semantic proximity Read ↗

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.Semantic proximity Read ↗

Clinical and molecular features of mitochondrial DNA depletion syndromes.Semantic proximity Read ↗

The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.Semantic proximity Read ↗

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.Semantic proximity Read ↗

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.Semantic proximity Read ↗

Quantitative evaluation of the mitochondrial DNA depletion syndrome.Semantic proximity Read ↗

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.Semantic proximity Read ↗

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.Semantic proximity Read ↗

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