Applying Patient-Specific Induced Pluripotent Stem Cells to Create a Model of Hypertrophic Cardiomyopathy
| Autor: | E.V. Dementyeva, S.M. Zakian, M M Slotvitsky, Dmitry Shtokalo, E. A. Pokushalov, V.R. Kovalenko, E.I. Kretov, Sergey P. Medvedev, Yu.V. Vyatkin |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male Cellular differentiation Induced Pluripotent Stem Cells Cardiomyopathy Disease medicine.disease_cause Models Biological Biochemistry Pathogenesis 03 medical and health sciences Directed differentiation medicine Humans Induced pluripotent stem cell Cells Cultured 0303 health sciences Mutation business.industry 030302 biochemistry & molecular biology Hypertrophic cardiomyopathy Cell Differentiation General Medicine Cardiomyopathy Hypertrophic medicine.disease Cancer research Calcium business |
| Zdroj: | Biochemistry (Moscow). 84:291-298 |
| ISSN: | 1608-3040 0006-2979 |
| Popis: | Generation of patient-specific induced pluripotent stem cells (iPSCs) and their subsequent differentiation into cardiomyocytes opened new opportunities for studying pathogenesis of inherited cardiovascular diseases. One of these diseases is hypertrophic cardiomyopathy (HCM) for which no efficient therapy methods have been developed so far. In this study, the approach based on patient-specific iPSCs was applied to create a model of the disease. Genetic analysis of a hypertrophic cardiomyopathy patient revealed R326Q mutation in the MYBPC3 gene. iPSCs of the patient were generated and characterized. The cells were differentiated into cardiomyocytes together with the control iPSCs from a healthy donor. The patient's iPSC-derived cardiomyocytes exhibited early HCM features, such as abnormal calcium handling and increased intracellular calcium concentration. Therefore, cardiomyocytes obtained by directed differentiation of iPSCs from the HCM patient can be used as a model system to study HCM pathogenesis. |
| Databáze: | OpenAIRE |
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