Chronic Calmodulin-Kinase II Activation Drives Disease Progression in Mutation-Specific Hypertrophic Cardiomyopathy.

ABSTRACT:

Background

Although the genetic causes of hypertrophic cardiomyopathy (HCM) are widely recognized, considerable lag in the development of targeted therapeutics has limited interventions to symptom palliation. This is in part attributable to an incomplete understanding of how point mutations trigger pathogenic remodeling. As a further complication, similar mutations within sarcomeric genes can result in differential disease severity, highlighting the need to understand the mechanism of progression at the molecular level. One pathway commonly linked to HCM progression is calcium homeostasis dysregulation, though how specific mutations disrupt calcium homeostasis remains unclear.

Methods

To evaluate the effects of early intervention in calcium homeostasis, we used 2 mouse model

SUBMITTER: Lehman SJ 

PROVIDER: S-EPMC6461395 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature