Poor Myocardial Compaction in a Patient with Recessive <i>MYL2</i> Myopathy

Abstract

Recessive mutations in the Myosin regulatory light chain 2 (MYL2) gene are the cause of an infantile-onset myopathy, associated with fatal myocardial disease of variable macromorphology. We here present the first Japanese family affected with recessive MYL2 myopathy. Affected siblings manifested typical features and the proband's autopsy findings were compatible with the diagnosis of noncompaction cardiomyopathy. The rapidly progressive clinical course of this recessive MYL2 cardiomyopathy highlights the crucial role of c-terminal tails in MYL2 protein in maintaining cardiac morphology and function.

Proteomic sequencing analysis in a rat model of atrial fibrosis caused by chronic intermittent hypoxia

“…Myl2 is a sarcomeric protein that belongs to the EF-hand calcium-binding protein family. During early embryogenesis, Myl2 plays essential roles in maintaining cardiac morphology and in regulating cardiac contractile function ( 31 , 32 ). Moreover, MLC-2v phosphorylation has been shown to play direct roles in cross-bridge cycling kinetics, calcium-dependent cardiac muscle contraction, cardiac torsion, cardiac function, and various cardiac diseases ( 31 - 33 ).…”

“…Moreover, MLC-2v phosphorylation has been shown to play direct roles in cross-bridge cycling kinetics, calcium-dependent cardiac muscle contraction, cardiac torsion, cardiac function, and various cardiac diseases ( 31 - 33 ). Moreover, variations in Myl2 and Myl3 can cause HCM or restrictive cardiomyopathy and increase the risk of sudden cardiac death ( 32 , 34 ). However, the molecular mechanism still warrants further investigation.…”