Abstract
Hypertrophic cardiomyopathy (HCM) has an incidence of 1:500 with at least 40% of this population directly caused by sarcomeric gene mutations. In this study we examine two of the most frequently mutated contractile proteins in HCM patients; MYBPC3 and the troponin family (Tn). SPontaneous Oscillatory Contractions (SPOCs) were induced in myectomy samples to identify functional characteristics of these mutations in the contraction-relaxation cycles that are intrinsic to the sarcomeres. PCA demonstrated distinctive clustering of the two HCM mutant myectomy populations and donors. However, we found no differences between the types of mutations and their pathological variants. This information will help us to understand the underlying mechanics of the failing HCM phenotype.
Original language | English |
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Title of host publication | ASB-BSJ Bilateral Symposium 2013 |
Subtitle of host publication | The 51th Annual Meeting of the Biophysical Society of Japan |
Publisher | Biophysical Society of Japan |
Pages | S99 |
Number of pages | 1 |
Volume | 53, Supplement 1-2 |
ISBN (Electronic) | 1347-4219 |
ISBN (Print) | 0582-4052 |
DOIs | |
Publication status | Published - 2013 |
Externally published | Yes |
Event | Annual Meeting of the Biophysical Society of Japan (51st : 2013) - Kyoto International Conference Centre, Kyoto, Japan Duration: 28 Oct 2013 → 30 Oct 2013 |
Conference
Conference | Annual Meeting of the Biophysical Society of Japan (51st : 2013) |
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Abbreviated title | BSJ51 |
Country/Territory | Japan |
City | Kyoto |
Period | 28/10/13 → 30/10/13 |