<script type="text/javascript">
<!--
document.write('<div id="oa_widget"></div>');
document.write('<script type="text/javascript" src="https://www.openaire.eu/index.php?option=com_openaire&view=widget&format=raw&projectId=undefined&type=result"></script>');
-->
</script>
Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart

Dilated cardiomyopathy caused by tissue-specific ablation of SC35 in the heart
Many genetic diseases are caused by mutations in cis-acting splicing signals, but few are triggered by defective trans-acting splicing factors. Here we report that tissue-specific ablation of the splicing factor SC35 in the heart causes dilated cardiomyopathy (DCM). Although SC35 was deleted early in cardiogenesis by using the MLC-2v-Cre transgenic mouse, heart development appeared largely unaffected, with the DCM phenotype developing 3-5 weeks after birth and the mutant animals having a normal life span. This nonlethal phenotype allowed the identification of downregulated genes by microarray, one of which was the cardiac-specific ryanodine receptor 2. We showed that downregulation of this critical Ca2+ release channel preceded disease symptoms and that the mutant cardiomyocytes exhibited frequency-dependent excitation-contraction coupling defects. The implication of SC35 in heart disease agrees with a recently documented link of SC35 expression to heart failure and interference of splicing regulation during infection by myocarditis-causing viruses. These studies raise a new paradigm for the etiology of certain human heart diseases of genetic or environmental origin that may be triggered by dysfunction in RNA processing.
- University of California, San Diego United States
Cardiomyopathy, Dilated, Mice, Knockout, Cell Death, Serine-Arginine Splicing Factors, Gene Expression Profiling, Myocardium, Down-Regulation, Nuclear Proteins, Heart, Ryanodine Receptor Calcium Release Channel, Myocardial Contraction, Mice, Animals, Newborn, Ribonucleoproteins, Mutation, Animals, Calcium, Myocytes, Cardiac, Cell Proliferation, Oligonucleotide Array Sequence Analysis
Cardiomyopathy, Dilated, Mice, Knockout, Cell Death, Serine-Arginine Splicing Factors, Gene Expression Profiling, Myocardium, Down-Regulation, Nuclear Proteins, Heart, Ryanodine Receptor Calcium Release Channel, Myocardial Contraction, Mice, Animals, Newborn, Ribonucleoproteins, Mutation, Animals, Calcium, Myocytes, Cardiac, Cell Proliferation, Oligonucleotide Array Sequence Analysis
52 Research products, page 1 of 6
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
chevron_left - 1
- 2
- 3
- 4
- 5
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).132 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%