The Research Progress of Human Induced Pluripotent Stem Cells as a Technology of Arrhythmogenic Right Ventricular Cardiomyopathy
FAN Hangping1,2, LIANG Ping1,2*
ARVC (arrhythmogenic right ventricular cardiomyopathy) is characterized by family hereditary tendency with complicated pathogenesis. It is mainly for autosomal dominant inheritance, and a few autosomal recessive inheritance patients have also been reported with skin-related diseases. This myocardial disease is characterized by ventricular arrhythmias and fibrous-adipose tissue replacement, mainly in the right ventricle, with progressive left ventricular involvement. Available studies suggest that the disease is mainly associated with mutations in genes encoding desmosomal proteins, some of other non-desmosomal proteins are of doubtful relevance to the disease manifestation. The improvement of cardiopathy-detection tools and the establishment of appropriate models can lay the foundation of exploring the influence of mutated loci on heart function and facilitate the elucidation of gene-phenotype correlations for targeted therapies. For now, building appropriate animal models is time-consuming and challenging, so functional knowledge of these mutations remains limited. In this case, human iPSCs (induced pluripotent stem cells) carrying specific cardiomyopathy-associated mutations can be considered as an ideal tool. This article summarizes and discusses the molecular mechanisms of ARVC, causative factors including mutated genes, hormone levels and exercise status, and research models of iPSCs derived from patient somatic cells, with the aim of shedding light on the current state of research in this disease.
CN
EN