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cTnI N-Terminal deletion: an agent for rescuing restrictive cardiomyopathy, a disease caused by mutations of Cardiac Troponin I

Restrictive cardiomyopathy (RCM) is represented in part by left ventricular stiffness
and diastolic dysfunction. Missense mutations of the cardiac troponin I (cTnI) gene cause
idiopathic RCM. These mutations are located in the C-terminus of cTnI and affect cardiac
relaxation. Transgenic mouse models presenting the pathology observed in clinical
patients with RCM have been generated previously and express the mutant cTnI in their
hearts. RCM-linked mutations increase cardiac myofilament Ca2+ sensitivity and promote
diastolic dysfunction in the heart. Previous studies using double transgenic mice
(cTnI/R193H/ND) showed that ventricular relaxation is enhanced in the cTnI/R193H
transgenic mice. In this study, another double transgenic mouse model,
(cTnI/R193H/ND/KO), provides an avenue to investigate its rescuing effects on RCMlinked
mutations in the cTnI /R193H/KO mouse. Use of molecular biological techniques,
transgenic animal developments and murine echocardiography in this study has
culminated into a greater understanding of RCM and diastolic dysfunction. / Includes bibliography. / Thesis (M.S.)--Florida Atlantic University, 2014. / FAU Electronic Theses and Dissertations Collection

Identiferoai:union.ndltd.org:fau.edu/oai:fau.digital.flvc.org:fau_13666
ContributorsGetfield, Cecile A. (author), Huang, Xupei (Thesis advisor), Florida Atlantic University (Degree grantor), Charles E. Schmidt College of Medicine, Department of Biomedical Science
PublisherFlorida Atlantic University
Source SetsFlorida Atlantic University
LanguageEnglish
Detected LanguageEnglish
TypeElectronic Thesis or Dissertation, Text
Format71 p., application/pdf
RightsCopyright © is held by the author, with permission granted to Florida Atlantic University to digitize, archive and distribute this item for non-profit research and educational purposes. Any reuse of this item in excess of fair use or other copyright exemptions requires permission of the copyright holder., http://rightsstatements.org/vocab/InC/1.0/

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