Proteomics

Dataset Information

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Functional abnormalities in iPSC-CMs generated from titin-mutated patients

ABSTRACT: 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.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Heart, Stem Cell

DISEASE(S): Dilated Cardiomyopathy

SUBMITTER: Marta Murgia  

LAB HEAD: Alessandra Moretti

PROVIDER: PXD010513 | Pride | 2019-04-12

REPOSITORIES: Pride

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<h4>Aims</h4>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. Despite extensive research, the pathological mechanisms of DCM are unclear mainly due to numerous mutations in different gene families resulting in the same outcome-decreased ventricular function. Titin (TTN)-a giant protein, expressed in cardiac and skeletal muscles, is an important  ...[more]

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