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The Dark Side of Actin: characterization of hypertrophic cardiomyopathy linked S271F ACTC variant and dilated cardiomyopathy linked T126I ACTC variant

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dc.contributor.advisor Dawson, John
dc.contributor.author Teng, Zi
dc.date.accessioned 2020-04-20T20:56:02Z
dc.date.available 2020-04-20T20:56:02Z
dc.date.copyright 2020
dc.date.created 2020-03-24
dc.date.issued 2020-04-20
dc.identifier.uri http://hdl.handle.net/10214/17870
dc.description.abstract Cardiomyopathy is a commonly inherited cardiovascular disease that affect the heart muscle. Two types of cardiomyopathy include hypertrophic cardiomyopathy (HCM), where the left ventricle is thickened, and dilated cardiomyopathy (DCM), where left ventricle is thinned out. Mutations in genes that code for contractile proteins, such as α-cardiac actin (ACTC) has been linked to HCM or DCM. This thesis investigates two ACTC variants that have never been studied before: S271F, an HCM-linked ACTC variant and T126I, an DCM-linked ACTC variant. Both variants are located on the backside of the traditional ribbon diagram of actin; what I call the “dark side” of actin. Both variants were biochemically characterized. The S271F ACTC variant showed significant changes in its intrinsic properties, while the T126I ACTC variant displayed a decrease in calcium sensitivity. This research contributes to the understanding on disease mechanism of these ACTC variants in the development of cardiomyopathy. en_US
dc.language.iso en en_US
dc.subject heart disease en_US
dc.subject actin en_US
dc.subject cardiomyopathy en_US
dc.subject hypertrophic cardiomyopathy en_US
dc.subject dilated cardiomyopathy en_US
dc.subject Trifluropezarine en_US
dc.subject In vitro motility assay en_US
dc.subject calcium sensitivity en_US
dc.subject Myosin ATPase assay en_US
dc.title The Dark Side of Actin: characterization of hypertrophic cardiomyopathy linked S271F ACTC variant and dilated cardiomyopathy linked T126I ACTC variant en_US
dc.degree.programme Molecular and Cellular Biology en_US
dc.degree.name Master of Science en_US
dc.degree.department Department of Molecular and Cellular Biology en_US
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