Open AccessHaploinsufficiency ofTmem43in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy
Author(s) -
Leila Rouhi,
Sirisha Cheedipudi,
Suet Nee Chen,
Siyang Fan,
Raffaella Lombardi,
Xiaofan Chen,
Cristian Coarfa,
Matthew J. Robertson,
Priyatansh Gurha,
Ali J. Marian
Publication year - 2020
Publication title -
cardiovascular research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.774
H-Index - 219
eISSN - 1755-3245
pISSN - 0008-6363
DOI - 10.1093/cvr/cvaa300
Subject(s) - haploinsufficiency , myh6 , biology , cardiomyopathy , lamin , myocyte , medicine , senescence , cardiac fibrosis , cancer research , endocrinology , fibrosis , heart failure , phenotype , microbiology and biotechnology , genetics , gene , myh7 , gene isoform
Arrhythmogenic cardiomyopathy (ACM) encompasses a genetically heterogeneous group of myocardial diseases whose manifestations are sudden cardiac death, cardiac arrhythmias, heart failure, and in a subset fibro-adipogenic infiltration of the myocardium. Mutations in the TMEM43 gene, encoding transmembrane protein 43 (TMEM43) are known to cause ACM. The purpose of the study was to gain insights into the molecular pathogenesis of ACM caused by TMEM43 haploinsufficiency.