A mouse model of inherited choline kinase β-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.

ABSTRACT: The CHKB gene encodes choline kinase β, which catalyzes the first step in the biosynthetic pathway for the major phospholipid phosphatidylcholine. Homozygous loss-of-function variants in human CHKB are associated with a congenital muscular dystrophy. Dilated cardiomyopathy is present in some CHKB patients and can cause heart failure and death. Mechanisms underlying a cardiac phenotype due to decreased CHKB levels are not well characterized. We determined that there is cardiac hypertrophy in Chkb^-/- mice along with a decrease in left ventricle size, internal diameter, and stroke volume compared with wildtype and Chkb^+/- mice. Unlike wildtype mice, 60% of the Chkb^+/- and all Chkb^-/- mice tested displayed arrhythmic events when challenged with isopr

SUBMITTER: Tavasoli M 

PROVIDER: S-EPMC8913350 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature