Artikel ; Online: A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes.
2021 Band 11, Heft 1, Seite(n) 5243
Abstract: Idiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics of which are ... ...
Abstract | Idiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics of which are poorly understood. A man who had a first syncope at the age of 35 presented with frequent short-coupled premature ventricular beats with bursts of polymorphic ventricular tachycardia and then died suddenly. By exome sequencing, we identified three rare variants: p.I784F in the SPRY1 of the ryanodine receptor 2 (RyR2), p.A96S in connexin 40 (Cx40), reported to affect electrical coupling and cardiac conduction, and a nonsense p.R244X in the cardiac-specific troponin I-interacting kinase (TNNI3K). We assessed intracellular Ca |
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Mesh-Begriff(e) | Adult ; Aged ; Aged, 80 and over ; Calcium Signaling/genetics ; Connexins/genetics ; Death, Sudden/epidemiology ; Female ; HEK293 Cells ; Humans ; Male ; Membrane Proteins/genetics ; Middle Aged ; Myocardial Ischemia/genetics ; Myocardial Ischemia/pathology ; Phosphoproteins/genetics ; Protein Domains/genetics ; Protein Serine-Threonine Kinases/genetics ; Ryanodine Receptor Calcium Release Channel/genetics ; Torsades de Pointes/complications ; Torsades de Pointes/genetics ; Torsades de Pointes/pathology ; Ventricular Fibrillation/genetics ; Ventricular Fibrillation/pathology ; Exome Sequencing ; Gap Junction alpha-5 Protein |
Chemische Substanzen | Connexins ; Membrane Proteins ; Phosphoproteins ; RyR2 protein, human ; Ryanodine Receptor Calcium Release Channel ; SPRY1 protein, human ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; TNNI3K protein, human (EC 2.7.11.1) |
Sprache | Englisch |
Erscheinungsdatum | 2021-03-04 |
Erscheinungsland | England |
Dokumenttyp | Journal Article ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2615211-3 |
ISSN | 2045-2322 ; 2045-2322 |
ISSN (online) | 2045-2322 |
ISSN | 2045-2322 |
DOI | 10.1038/s41598-021-84373-9 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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