Cardiac Troponin Mutations and Restrictive Cardiomyopathy

المؤلفون المشاركون

Dweck, David
Potter, James D.
Pinto, Jose Renato
Parvatiyar, Michelle S.

المصدر

Journal of Biomedicine and Biotechnology

العدد

المجلد 2010، العدد 2010 (31 ديسمبر/كانون الأول 2010)، ص ص. 1-9، 9ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2010-06-08

دولة النشر

مصر

عدد الصفحات

9

التخصصات الرئيسية

الطب البشري

الملخص EN

Mutations in sarcomeric proteins have recently been established as heritable causes of Restrictive Cardiomyopathy (RCM).

RCM is clinically characterized as a defect in cardiac diastolic function, such as, impaired ventricular relaxation, reduced diastolic volume and increased end-diastolic pressure.

To date, mutations have been identified in the cardiac genes for desmin, α-actin, troponin I and troponin T.

Functional studies in skinned muscle fibers reconstituted with troponin mutants have established phenotypes consistent with the clinical findings which include an increase in myofilament Ca2+ sensitivity and basal force.

Moreover, when RCM mutants are incorporated into reconstituted myofilaments, the ability to inhibit the ATPase activity is reduced.

A majority of the mutations cluster in specific regions of cardiac troponin and appear to be mutational “hot spots”.

This paper highlights the functional and clinical characteristics of RCM linked mutations within the troponin complex.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Parvatiyar, Michelle S.& Pinto, Jose Renato& Dweck, David& Potter, James D.. 2010. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. Journal of Biomedicine and Biotechnology،Vol. 2010, no. 2010, pp.1-9.
https://search.emarefa.net/detail/BIM-464932

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Parvatiyar, Michelle S.…[et al.]. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. Journal of Biomedicine and Biotechnology No. 2010 (2010), pp.1-9.
https://search.emarefa.net/detail/BIM-464932

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Parvatiyar, Michelle S.& Pinto, Jose Renato& Dweck, David& Potter, James D.. Cardiac Troponin Mutations and Restrictive Cardiomyopathy. Journal of Biomedicine and Biotechnology. 2010. Vol. 2010, no. 2010, pp.1-9.
https://search.emarefa.net/detail/BIM-464932

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-464932