Abstract
Mitochondrial depletion syndromes (MDS) are a class of mitochondrial diseases characterized by reduction of mitochondrial DNA (mtDNA) content in muscle and/or liver as well as encephalomyopathy or hepatoencephalopathy. Mutations in SUCLG1 or SUCLA2, which encode the a and the ADP-specific b isoforms, respectively, of Succinyl-CoA Synthetase (SCS) and cause MDS associated with mild methylmalonic acidemia. SCS deficiency is speculated to cause mtDNA depletion through perturbation of mitochondrial nucleotide pools by disruption of its interaction with mitochondrial nucleotide diphosphate kinase (NDPK). Development and study of models of SCS deficiency are required to better understand the pathogenesis of SCS-dependent MDS and to develop novel therapeutic approaches.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
