Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy
المؤلفون المشاركون
Ojala, Marisa
Rasku, Jyrki
Prajapati, Chandra
Pölönen, Risto-Pekka
Rajala, Kristiina
Pekkanen-Mattila, Mari
Larsson, Kim
Aalto-Setala, K.
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-16، 16ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-12-28
دولة النشر
مصر
عدد الصفحات
16
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1116097
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر