Research output: Contribution to journal › Article › peer-review
Applying Patient-Specific Induced Pluripotent Stem Cells to Create a Model of Hypertrophic Cardiomyopathy. / Dementyeva, E. V.; Medvedev, S. P.; Kovalenko, V. R. et al.
In: Biochemistry (Moscow), Vol. 84, No. 3, 01.03.2019, p. 291-298.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - Applying Patient-Specific Induced Pluripotent Stem Cells to Create a Model of Hypertrophic Cardiomyopathy
AU - Dementyeva, E. V.
AU - Medvedev, S. P.
AU - Kovalenko, V. R.
AU - Vyatkin, Yu V.
AU - Kretov, E. I.
AU - Slotvitsky, M. M.
AU - Shtokalo, D. N.
AU - Pokushalov, E. A.
AU - Zakian, S. M.
N1 - Publisher Copyright: © 2019, Pleiades Publishing, Ltd.
PY - 2019/3/1
Y1 - 2019/3/1
N2 - 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.
AB - 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.
KW - cardiomyocytes
KW - human disease models
KW - hypertrophic cardiomyopathy
KW - induced pluripotent stem cells
UR - http://www.scopus.com/inward/record.url?scp=85063502415&partnerID=8YFLogxK
U2 - 10.1134/S0006297919030118
DO - 10.1134/S0006297919030118
M3 - Article
C2 - 31221067
AN - SCOPUS:85063502415
VL - 84
SP - 291
EP - 298
JO - Biochemistry (Moscow)
JF - Biochemistry (Moscow)
SN - 0006-2979
IS - 3
ER -
ID: 19028846