Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
Joint Authors
Ojala, Marisa
Rasku, Jyrki
Prajapati, Chandra
Pölönen, Risto-Pekka
Rajala, Kristiina
Pekkanen-Mattila, Mari
Larsson, Kim
Aalto-Setala, K.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2015), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-12-28
Country of Publication
Egypt
No. of Pages
16
Abstract EN
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease, which affects the structure of heart muscle tissue.
The clinical symptoms include arrhythmias, progressive heart failure, and even sudden cardiac death but the mutation carrier can also be totally asymptomatic.
To date, over 1400 mutations have been linked to HCM, mostly in genes encoding for sarcomeric proteins.
However, the pathophysiological mechanisms of the disease are still largely unknown.
Two founder mutations for HCM in Finland are located in myosin-binding protein C (MYBPC3-Gln1061X) and α-tropomyosin (TPM1-Asp175Asn) genes.
We studied the properties of HCM cardiomyocytes (CMs) derived from patient-specific human induced pluripotent stem cells (hiPSCs) carrying either MYBPC3-Gln1061X or TPM1-Asp175Asn mutation.
Both types of HCM-CMs displayed pathological phenotype of HCM but, more importantly, we found differences between CMs carrying either MYBPC3-Gln1061X or TPM1-Asp175Asn gene mutation in their cellular size, Ca2+ handling, and electrophysiological properties, as well as their gene expression profiles.
These findings suggest that even though the clinical phenotypes of the patients carrying either MYBPC3-Gln1061X or TPM1-Asp175Asn gene mutation are similar, the genetic background as well as the functional properties on the cellular level might be different, indicating that the pathophysiological mechanisms behind the two mutations would be divergent as well.
American Psychological Association (APA)
Ojala, Marisa& Prajapati, Chandra& Pölönen, Risto-Pekka& Rajala, Kristiina& Pekkanen-Mattila, Mari& Rasku, Jyrki…[et al.]. 2015. Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy. Stem Cells International،Vol. 2016, no. 2016, pp.1-16.
https://search.emarefa.net/detail/BIM-1116097
Modern Language Association (MLA)
Ojala, Marisa…[et al.]. Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy. Stem Cells International Vol. 2016, no. 2016 (2015), pp.1-16.
https://search.emarefa.net/detail/BIM-1116097
American Medical Association (AMA)
Ojala, Marisa& Prajapati, Chandra& Pölönen, Risto-Pekka& Rajala, Kristiina& Pekkanen-Mattila, Mari& Rasku, Jyrki…[et al.]. Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy. Stem Cells International. 2015. Vol. 2016, no. 2016, pp.1-16.
https://search.emarefa.net/detail/BIM-1116097
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1116097