Applying Patient-Specific Induced Pluripotent Stem Cells to Create a Model of Hypertrophic Cardiomyopathy

E. V. Dementyeva, S. P. Medvedev, V. R. Kovalenko, Yu V. Vyatkin, E. I. Kretov, M. M. Slotvitsky, D. N. Shtokalo, E. A. Pokushalov, S. M. Zakian

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)291-298
Number of pages8
JournalBiochemistry (Moscow)
Volume84
Issue number3
DOIs
Publication statusPublished - 1 Mar 2019

Keywords

  • cardiomyocytes
  • human disease models
  • hypertrophic cardiomyopathy
  • induced pluripotent stem cells

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