Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.

ABSTRACT:

Background

Hypertrophic cardiomyopathy (HCM), defined as asymmetric left ventricular hypertrophy, is a leading cause of cardiac death in the young. Perturbations in calcium (Ca²⁺) handling proteins have been implicated in the pathogenesis of HCM. JPH2-encoded junctophilin 2 is a major component of the junctional membrane complex, the subcellular microdomain involved in excitation-contraction coupling. We hypothesized that a novel JPH2 mutation identified in patients with HCM is causally linked to HCM, and alters intracellular Ca²⁺ signaling in a pro-hypertrophic manner.

Objectives

To determine using a transgenic mouse model whether a JPH2 mutation found in a HCM patient is responsible for disease development.

Methods

Genetic interrogation

SUBMITTER: Quick AP 

PROVIDER: S-EPMC5384575 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature