GENERATION OF PLAKOGLOBIN EDITED PLURIPOTENT STEM CELLS FOR ARRYTHMOGENIC CARDIO - MYOPATHY DISEASE MODELLING

GUADALUPE AMIN; ALEJANDRO DAMIÁN LA GRECA; NATALIA LUCÍA SANTÍN VELAZQUE; GABRIEL NEIMAN; MARIA AGUSTINA SCARAFIA; ALAN MIQUEAS MÖBBS; ARIEL WAISMAN; CARLOS DANIEL LUZZANI; GUSTAVO EMILIO SEVLEVER; SANTIAGO GABRIEL MIRIUKA; LUCIA NATALIA MORO

Mar del Plata

Congreso; LXIII Annual Meeting of the Argentine Society for Clinical Investigation (SAIC); 2018

SAIC - Sociedad Argentina de Investigacion Clinica

Thearrhythmogenic cardiomyopathy (ACM) is a heart muscle disease thatevoques ventricle arrhythmias due to progressive replacement ofcontractile myocardium by fibro-fatty adipose tissue. The ACM has agenetic origin with mutations in desmosomal genes, includingnon-sense mutations in the plakoglobin gene (Pkg). Our aim is togenerate a Pkg knockout (KO) iPSCs line by CRISPR/Cas9 and to modelthe disease in-vitro. First, we analyzed the Pkg expression duringthe differentiation of iPSCs to cardiomyocytes. No differences of Pkggene expression were seen by RT-qPCR among day 0, day 3.5, day 7 andday 21 of differentiation. However, wester blot (WB) analysis showedan increase of 15 to 50 times of PKG protein expression between day 0and day 21 (p