{"id":7320,"date":"2012-04-22T16:12:26","date_gmt":"2012-04-22T16:12:26","guid":{"rendered":"http:\/\/cardiophile.org\/?p=7320"},"modified":"2012-04-22T16:12:26","modified_gmt":"2012-04-22T16:12:26","slug":"ninth-gene-for-brugada-syndrome-brs9-identified","status":"publish","type":"post","link":"https:\/\/johnsonfrancis.org\/professional\/ninth-gene-for-brugada-syndrome-brs9-identified\/","title":{"rendered":"Ninth gene for Brugada syndrome (BRGDA9)"},"content":{"rendered":"<p><iframe loading=\"lazy\" width=\"560\" height=\"315\" src=\"https:\/\/www.youtube.com\/embed\/2o3-T3DXk5g\" title=\"YouTube video player\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen=\"\"><\/iframe><\/p>\n<h2><span style=\"color: #008000;\">Ninth gene for Brugada syndrome (BRGDA9)<\/span><\/h2>\n<p>The eight previously known Brugada syndrome susceptibility genes are [three sodium channel (SCN) genes, two potassium channel(KCN) genes, two calcium channel (CACN) genes and one glycerol-3-phosphate dehydrogenase(GPD) 1-like gene]:<br \/>\nBRGDA1: SCN5A<br \/>\nBRGDA2: GPD1L<br \/>\nBRGDA3: CACNA1C<br \/>\nBRGDA4: CACNB2<br \/>\nBRGDA5: SCN1B<br \/>\nBRGDA6: KCNE3<br \/>\nBRGDA7: SCN3B<br \/>\nBRGDA8: KCNJ8<br \/>\nBRGDA9: KCND3<\/p>\n<p>John R Giudicessi, Dan Ye, David J Tester, Lia Crotti, Alessandra Mugione, Vladislav V Nesterenko, Richard M Albertson, Charles Antzelevitch, Peter J Schwartz and Michael J Ackerman [1] have identified the ninth gene for Brugada syndrome mutation in the KCND3-encoded Kv4.3 (I<sub>to<\/sub>), which is a missense mutation. These mutations (Kv4.3-L450F and Kv4.3-G600R) had a gain-of-function phenotype which increased the peak I<sub>to<\/sub> (transient outward) current density. This (KCND3 mutation) is the ninth gene for Brugada syndrome to be identified and has been designated BRGDA9 by Online Mendelian Inheritance in Man (<a href=\"https:\/\/omim.org\/entry\/616399\">OMIM) database<\/a>. The authors also demonstrated a stable loss of the action potential dome due to the increased I<sub>to<\/sub> maximal conductance with these mutations. They noted the possibility of lethal arrhythmia with this mutation precipitated by enhanced I<sub>to<\/sub> current gradient within the right ventricle where KCND3 expression is highest.<\/p>\n<p><span style=\"color: #0000ff;\"><strong>Reference<\/strong><\/span><\/p>\n<ol>\n<li>John R Giudicessi, Dan Ye, David J Tester, Lia Crotti, Alessandra Mugione, Vladislav V Nesterenko, Richard M Albertson, Charles Antzelevitch, Peter J Schwartz, Michael J Ackerman. <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21349352\">Transient outward current (I<sub>to<\/sub>) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome<\/a>. Heart Rhythm. 2011 Jul;8(7):1024-32.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>The eight previously known Brugada syndrome  genes are three Na channel genes, two K channel genes, two Ca channel genes and one GPD 1-like gene.<\/p>\n","protected":false},"author":1,"featured_media":35767,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"nf_dc_page":"","footnotes":""},"categories":[6],"tags":[],"class_list":["post-7320","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ecg-electrophysiology"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Ninth gene for Brugada syndrome (BRGDA9)<\/title>\n<meta name=\"description\" content=\"Ninth gene for Brugada syndrome (BRGDA9): KCND3 mutation is the ninth gene for Brugada syndrome to be identified and has been designated BRGDA9.\" \/>\n<meta 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