SNPMiner Trials (Home Page)
Report for Mutation S2808A
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure
Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy
NCT03590522 Heart Failure Genetic: Ryanodine Receptor 2 gene expression MeSH:Heart Failure Genetic Diseases, Inborn
HPO:Congestive heart failure Left ventricular dysfunction Right ventricular failure
In support of this hypothesis, mice unable to undergo phosphorylation at RyR2-S2808 (S2808A) were significantly protected against HF and displayed a blunted response to adrenergic stimulation. --- S2808A ---
Primary Outcomes
Description: better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and the role of amino acids in pathogenesis of heart failure
Measure: Decrease cardiac ryanodine Receptor 2 gene expression and change of amino acids levels in patients with heart failure. Time: Baseline