Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
encephalomyopathy
mitochondria
mitochondrial DNA
protein succinylation
succinyl-CoA synthetase
tricarboxylic acid cycle
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Jun 2023
27 Jun 2023
Historique:
received:
12
05
2023
revised:
23
06
2023
accepted:
25
06
2023
medline:
17
7
2023
pubmed:
14
7
2023
entrez:
14
7
2023
Statut:
epublish
Résumé
Biallelic pathogenic variants in subunits of succinyl-CoA synthetase (SCS), a tricarboxylic acid (TCA) cycle enzyme, are associated with mitochondrial encephalomyopathy in humans. SCS catalyzes the interconversion of succinyl-CoA to succinate, coupled to substrate-level phosphorylation of either ADP or GDP, within the TCA cycle. SCS-deficient encephalomyopathy typically presents in infancy and early childhood, with many patients succumbing to the disease during childhood. Common symptoms include abnormal brain MRI, basal ganglia lesions and cerebral atrophy, severe hypotonia, dystonia, progressive psychomotor regression, and growth deficits. Although subunits of SCS were first identified as causal genes for progressive metabolic encephalomyopathy in the early 2000s, recent investigations are now beginning to unravel the pathomechanisms underlying this metabolic disorder. This article reviews the current understanding of SCS function within and outside the TCA cycle as it relates to the complex and multifactorial mechanisms underlying SCS-related mitochondrial encephalomyopathy.
Identifiants
pubmed: 37445899
pii: ijms241310725
doi: 10.3390/ijms241310725
pmc: PMC10342173
pii:
doi:
Substances chimiques
succinyl-coenzyme A
BSI27HW5EQ
Succinate-CoA Ligases
EC 6.2.1.-
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NINDS NIH HHS
ID : R01 NS126597
Pays : United States
Organisme : NIH HHS
ID : R01 NS126597
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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