Ontology highlight
ABSTRACT:
SUBMITTER: Bienengraeber M
PROVIDER: S-EPMC1995438 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
Bienengraeber Martin M Olson Timothy M TM Selivanov Vitaliy A VA Kathmann Eva C EC O'Cochlain Fearghas F Gao Fan F Karger Amy B AB Ballew Jeffrey D JD Hodgson Denice M DM Zingman Leonid V LV Pang Yuan-Ping YP Alekseev Alexey E AE Terzic Andre A
Nature genetics 20040321 4
Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardiomyopathy identified two mutations in ABCC9, which encodes the regulatory SUR2A subunit of the cardiac K(ATP) channel. These missense and frameshift mutations mapped to evolutionaril ...[more]