Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations.

ABSTRACT:

Background

PRKAG2 mutations cause glycogen-storage cardiomyopathy, ventricular preexcitation, and conduction system degeneration. A genetic approach that utilizes a binary inducible transgenic system was used to investigate the disease mechanism and to assess preventability and reversibility of disease features in a mouse model of glycogen-storage cardiomyopathy.

Methods and results

Transgenic (Tg) mice expressing a human N488I PRKAG2 cDNA under control of the tetracycline-repressible alpha-myosin heavy chain promoter underwent echocardiography, ECG, and in vivo electrophysiology studies. Transgene suppression by tetracycline administration caused a reduction in cardiac glycogen content and was initiated either prenatally (Tg(OFF(E-8 weeks))) or at different time points duri

SUBMITTER: Wolf CM 

PROVIDER: S-EPMC2957811 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature