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Hypertrophic cardiomyopathy-linked alpha-cardiac actin mutations and their role on actomyosin interactions

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dc.contributor.advisor Dawson, John F
dc.contributor.author Anillo, Maria
dc.date.accessioned 2015-05-05T15:24:38Z
dc.date.available 2015-05-05T15:24:38Z
dc.date.copyright 2015-04
dc.date.created 2015-04-27
dc.date.issued 2015-05-05
dc.identifier.uri http://hdl.handle.net/10214/8801
dc.description.abstract Mutations in genes encoding sarcomeric proteins are linked to changes in the myocardium which can manifest as hypertrophic cardiomyopathy (HCM). Three α-cardiac actin (ACTC) gene mutations (R95C, F90Δ, and H88Y) associated with HCM, are located in subdomain 1 of actin at the actomyosin interface. Cyclic interactions between actin and myosin result in contraction. The duty ratio, r, is the fraction of time spent by actin and myosin interacting. My hypothesis is that mutations in subdomain 1 of actin increase the duty ratio allowing for HCM development. The duty ratio for the R95C ACTC variant was found to be higher than bovine actin while F90Δ and H88Y were lower. Further investigation revealed that the DNase-I purification affected the activity of the ACTC variants. Therefore, the r for the ACTC variants may be unreliable; hence, I cannot confidently determine the mechanism used by the ACTC variants leading HCM development. en_US
dc.description.sponsorship Heart and Stroke Foundation of Canada en_US
dc.language.iso en en_US
dc.subject actin en_US
dc.subject myosin en_US
dc.subject hypertrophic cardiomyopathy en_US
dc.subject ACTC mutations en_US
dc.subject HCM en_US
dc.title Hypertrophic cardiomyopathy-linked alpha-cardiac actin mutations and their role on actomyosin interactions en_US
dc.type Thesis 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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