Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.

ABSTRACT: Mutations of the AMP-activated kinase gamma 2 subunit (AMPKγ2), N488I (AMPKγ2^NI) and R531G (AMPKγ2^RG), are associated with Wolff-Parkinson-White (WPW) syndrome, a cardiac disorder characterized by ventricular pre-excitation in humans. Cardiac-specific transgenic overexpression of human AMPKγ2^NI or AMPKγ2^RG leads to constitutive AMPK activation and the WPW phenotype in mice. However, overexpression of these mutant proteins also caused profound, non-physiological increase in cardiac glycogen, which might abnormally alter the true phenotype. To investigate whether physiological levels of AMPKγ2^NI or AMPKγ2^RG mutation cause WPW syndrome and metabolic changes in other organs, we generated two knock-in mouse lines on the C57BL/6N

SUBMITTER: Yang X 

PROVIDER: S-EPMC5095399 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature