The role of Plakophilin-2 in the pathogenesis and progression of ACM and treatment strategies
Literature ReviewThe role of Plakophilin-2 in the pathogenesis and progression of ACM and treatment strategies
Literature ReviewSamenvatting
Arrhythmogenic Cardiomyopathy (ACM), also known as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare hereditary disease of the heart, where the connective, and fatty tissue is deposited in the muscle tissue of the ventricular myocardium
primarily of the right but also left ventricle. ACM is mainly caused by mutations in the desmosome proteins such as in Plakophilin-2. At the moment, more than 200 mutations leading to ACM are known, whereas most of them are point mutations, but also frameshift and splicing variations have been reported. Treatment options at the moment mainly aim to prevent disease progression and increase quality of life. However, new studies have provided promising results for working with e.g. proteasome inhibitors, for certain mutations, isogenic induced pluripotent stem cell-derived cardiomyocytes (iPS-CMs), to restore the function of malfunctioning
desmosomes and CRISPR/Cas9 to better understand the disease.
This review explains and discusses the effects of mutations in desmosome proteins like plakophilin-2, and the treatment options for ACM.
Organisatie | HAN University of Applied Sciences |
Afdeling | Academie Toegepaste Biowetenschappen en Chemie |
Datum | 2023-12-05 |
Type | Bachelor |
Taal | Engels |