How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
| Autor: | Steven, Marston, O'Neal, Copeland, Katja, Gehmlich, Saskia, Schlossarek, Lucie, Carrier, Lucie, Carrrier |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Physiology
RNA Splicing Nonsense-mediated decay Cardiomyopathy Haploinsufficiency 030204 cardiovascular system & hematology Biology Biochemistry Frameshift mutation 03 medical and health sciences Exon 0302 clinical medicine medicine Animals Humans RNA Messenger Frameshift Mutation 030304 developmental biology Genetics 0303 health sciences Myocardium Intron Hypertrophic cardiomyopathy Exons Cell Biology Cardiomyopathy Hypertrophic Peptide Chain Termination Translational medicine.disease Nonsense Mediated mRNA Decay Codon Nonsense RNA splicing Calcium Carrier Proteins |
| Zdroj: | Journal of Muscle Research and Cell Motility Journal of Muscle Research and Cell Motility; Vol 33 |
| ISSN: | 1573-2657 0142-4319 |
| Popis: | It is well established that MYBPC3 mutations are the most common cause of hypertrophic cardiomyopathy, accounting for about half of identified mutations. However, when compared with mutations in other myofibrillar proteins that cause hypertrophic cardiomyopathy, MYBPC3 mutations seem to be the odd one out. The most striking characteristic of HCM mutations in MYBPC3 is that many are within introns and are predicted to cause aberrant splicing leading to a frameshift and a premature chain termination, yet the truncated peptides have never been identified in human heart tissue carrying these mutations. Instead of expression of a poison peptide we consistently observe haploinsufficiency of MyBP-C in MYBPC3 mutant human heart muscle. In this review we investigate the mechanism for MyBP-C haploinsufficiency and consider how this haploinsufficiency could cause hypertrophic cardiomyopathy. |
| Databáze: | OpenAIRE |
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