Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.

ABSTRACT: (1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K⁺ (KATP) channel subunits SUR2 and Kir6.1, respectively. Most CS patients have mutations in SUR2, the major component of skeletal muscle KATP, but the consequences of SUR2 GOF in skeletal muscle are unknown. (2) Methods: We performed in vivo and ex vivo characterization of skeletal muscle in heterozygous SUR2[A478V] (SUR2^wt/AV) and homozygous SUR2[A478V] (SUR2^AV/AV) CS mice. (3) Results: In SUR2^wt/AV and SUR2^AV/AV mice, forelimb strength and diaphragm amplitude movement were reduced; muscle echodensity was enhanced. KATP channel currents recorded in Flexor digitorum brevis fibers showe

SUBMITTER: Scala R 

PROVIDER: S-EPMC8307364 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature