The TMEM43 S358L mutation affects cardiac, small intestine, and metabolic homeostasis in a knock-in mouse model

• Published in: American journal of physiology. Heart and circulatory physiology Vol. 324; no. 6; pp. H866 - H880
• Main Authors: Orgil, Buyan-Ochir, Munkhsaikhan, Undral, Pierre, Joseph F., Li, Ning, Xu, Fuyi, Alberson, Neely R., Johnson, Jason N., Wetzel, Glenn T., Boukens, Bastiaan J. D., Lu, Lu, Towbin, Jeffrey A., Purevjav, Enkhsaikhan
• Format: Journal Article
• Language: English
• Published: United States American Physiological Society 01.06.2023
• Subjects: Abnormalities; Animals; Arrhythmias, Cardiac - metabolism; Arrhythmogenic Right Ventricular Dysplasia - diagnosis; Arrhythmogenic Right Ventricular Dysplasia - genetics; beta Catenin - metabolism; Cardiac arrhythmia; Cardiomyocytes; Cardiomyopathy; Catenin; Congestive heart failure; Echocardiography; EKG; Electrocardiography; Electron microscopy; Gender; Genetics; Health risks; Histology; Homeostasis; Immunohistochemistry; In vivo methods and tests; Infiltration; Intestine; Intestine, Small; Intolerance; Lipids; Male; Metabolic pathways; Metabolism; Mice; Mutants; Mutation; Myocardium; Myocytes, Cardiac - metabolism; Pathological effects; Peroxisome proliferator-activated receptors; Phenotypes; PPAR gamma - metabolism; Proteins; Small intestine; Transcriptomes; Ventricle; Wnt protein; β-Catenin; PPARG; ARVC5; arrhythmogenic cardiomyopathy; Wnt-β-catenin; TMEM43/LUMA

This manuscript describes the findings of our investigation of cardiac, small intestine, and metabolic features of Tmem43-S358L mouse model. By investigating interorgan pathologies, we uncovered multiple mechanisms of the S358L-induced disease, and these unique mechanisms likely appear to contribute...