Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.
| dc.contributor.author | Landstrom, AP | |
| dc.contributor.author | Ackerman, MJ | |
| dc.date.accessioned | 2020-04-01T13:39:39Z | |
| dc.date.available | 2020-04-01T13:39:39Z | |
| dc.date.issued | 2012-06 | |
| dc.date.updated | 2020-04-01T13:39:38Z | |
| dc.description.abstract | Traditionally regarded as a genetic disease of the cardiac sarcomere, hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease and a significant cause of sudden cardiac death. While the most common etiologies of this phenotypically diverse disease lie in a handful of genes encoding critical contractile myofilament proteins, approximately 50% of patients diagnosed with HCM worldwide do not host sarcomeric gene mutations. Recently, mutations in genes encoding calcium-sensitive and calcium-handling proteins have been implicated in the pathogenesis of HCM. Among these are mutations in TNNC1- encoded cardiac troponin C, PLN-encoded phospholamban, and JPH2-encoded junctophilin 2 which have each been associated with HCM in multiple studies. In addition, mutations in RYR2-encoded ryanodine receptor 2, CASQ2-encoded calsequestrin 2, CALR3-encoded calreticulin 3, and SRI-encoded sorcin have been associated with HCM, although more studies are required to validate initial findings. While a relatively uncommon cause of HCM, mutations in genes that encode calcium-handling proteins represent an emerging genetic subset of HCM. Furthermore, these naturally occurring disease-associated mutations have provided useful molecular tools for uncovering novel mechanisms of disease pathogenesis, increasing our understanding of basic cardiac physiology, and dissecting important structure-function relationships within these proteins. | |
| dc.identifier | CMM-EPUB-20120418-004 | |
| dc.identifier.issn | 1566-5240 | |
| dc.identifier.issn | 1875-5666 | |
| dc.identifier.uri | ||
| dc.language | eng | |
| dc.publisher | Bentham Science Publishers Ltd. | |
| dc.relation.ispartof | Current molecular medicine | |
| dc.relation.isversionof | 10.2174/156652412800620020 | |
| dc.subject | Humans | |
| dc.subject | Cardiomyopathy, Hypertrophic | |
| dc.subject | Calcium | |
| dc.subject | Calcium-Binding Proteins | |
| dc.subject | Troponin | |
| dc.subject | Membrane Proteins | |
| dc.subject | Mutation | |
| dc.subject | Models, Biological | |
| dc.title | Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins. | |
| dc.type | Journal article | |
| duke.contributor.orcid | Landstrom, AP|0000-0002-1878-9631 | |
| pubs.begin-page | 507 | |
| pubs.end-page | 518 | |
| pubs.issue | 5 | |
| pubs.organisational-group | School of Medicine | |
| pubs.organisational-group | Cell Biology | |
| pubs.organisational-group | Pediatrics, Cardiology | |
| pubs.organisational-group | Duke | |
| pubs.organisational-group | Basic Science Departments | |
| pubs.organisational-group | Pediatrics | |
| pubs.organisational-group | Clinical Science Departments | |
| pubs.publication-status | Published | |
| pubs.volume | 12 |
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