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SUCLG1 encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase.
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We report two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy. Mutational analysis of SUCLG1 gene showed the presence of c.41T > C in exon 1 in a homozygous state. This mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence.
These abnormal phenotypes are rescued upon ectopic expression of wild-type SUCLG1 in the patient's fibroblasts, thus functionally confirming the pathogenic nature of the SUCLG1 VUS identified in this patient and expanding the phenotypic spectrum for SUCLG1 deficiency
Long survival, to age 20 years or older, was reported in 12% of SUCLA2 (zeige SUCLA2 Proteine) and in 10% of SUCLG1 patients.
First Chinese report of succinyl-CoA ligase (zeige SUCLG2 Proteine) deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified
3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 (zeige SUCLA2 Proteine) and c.531+4A>T in SUCLG1).
Our results suggest that SUCLG1 mutations that lead to complete absence of SUCLG1 protein are responsible for a very severe disorder with antenatal manifestations, whereas a SUCLA2 (zeige SUCLA2 Proteine)-like phenotype is found in patients with residual SUCLG1 protein.
This report enlarges the phenotypic spectrum of SUCLG1 mutations and confirms that a characteristic metabolic profile (presence of MMA (zeige MMD Proteine) and C4-DC carnitine in urines) and basal ganglia MRI (zeige C7ORF49 Proteine) lesions are the hallmarks of SCS (zeige TWIST1 Proteine) defects.
A novel mutation in the SUCLG1 gene was found in two newborns having lethal lactic acidosis, multi-organ failure and congenital malformations including interrupted aortic arch.
Pig GTP (zeige AK3 Proteine)-specific succinyl-CoA (zeige OXCT1 Proteine) synthetase was crystallized in the presence of succinate, magnesium ions and CoA, and the structure of the complex was determined by X-ray crystallography to 2.2 A resolution. Succinate binds in the carboxy-terminal domain of the beta-subunit (zeige POLG Proteine).
Structure of GTP-specific succinyl-CoA synthetase subunits in complex with CoA has been resolved.
succinyl-CoA (zeige OXCT1 Proteine) synthetase is able to protect GTP (zeige AK3 Proteine) from hydrolysis when the active-site histidine residue is not in position to be phosphorylated
ADP and GDP succinyl-CoA (zeige OXCT1 Proteine) synthetases have different expression patterns and specificity
This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion.
succinate-CoA ligase, GDP-forming, alpha subunit
, succinate-CoA ligase, GDP-forming alpha subunit
, succinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial
, succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial
, succinyl-CoA synthetase subunit alpha
, succinyl-CoA synthetase alpha subunit