Project description:Dilated cardiomyopathy (DCM), a myocardial disorder that can result in progressive heart failure and arrhythmias, is defined by ventricular chamber enlargement and dilatation, and systolic dysfunction. To decipher the basis for the cardiac pathology in titin-mutated patients, we investigated the hypothesis that induced Pluripotent Stem Cell (iPSC)- derived cardiomyocytes (iPSC-CM) generated from patients, recapitulate the disease phenotype.Our findings show that the mutated cardiomyocytes from DCM patients recapitulate abnormalities of the inherited cardiomyopathies.
Project description:Expression of mutated genes (mRNA) in tumor cells may originate new protein sequences potentially recognized by lymphocytes, denominated neoantigens. The purpose of this study is the chracterization of the expression of mutated genes in tumor samples in patients with hepatocellular carcinoma. Expression of the mutated genes are compared with that of the wild-type (WT) version in the tumor cells, Moreover, expression of these mutated and WT genes is also analyzed in non-tumoral lver tissue. Thse comparative experiments have allowed to demostrated specific expression of mutated genes in tumor cells obtained from patients.