ArticleScientific reports2017
Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.Human mutation · 2020Article
- Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.Journal of the American Heart Association · 2018Review
- An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.Journal of the American Heart Association · 2017Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM). In HEK293 cells with pH 7.4, VCL-M94I caused ~30% decrease in peak sodium current (I
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