{"id":1736,"date":"2022-06-15T15:05:21","date_gmt":"2022-06-15T15:05:21","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1736"},"modified":"2026-02-23T00:50:37","modified_gmt":"2026-02-23T00:50:37","slug":"association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\/","title":{"rendered":"Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT\/\u03b2-catenin pathway (Contributed by Professor Aijun Sun)"},"content":{"rendered":"<p>We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (<em>SCN5A<\/em> R225Q variant) and environmental factors (age and other pathogenic factors), and elucidated the underlying pathogenic mechanism (elevated intercellular pH and WNT\/\u03b2-catenin pathway activation). Therefore, for patients with dilated cardiomyopathy carrying some cardiac sodium channel gene mutations which might cause pH elevation, such as <em>SCN5A<\/em> R225Q variant, the corresponding pathway inhibitor (WNT-C59) might be used to improve cardiac function and reduce mortality in the future. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/14\/jmedgenet-2021-108396\">https:\/\/jmg.bmj.com\/content\/early\/2022\/06\/14\/jmedgenet-2021-108396<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\/team\/\" rel=\"attachment wp-att-1737\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1737\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-300x131.png\" alt=\"\" width=\"300\" height=\"131\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-300x131.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-1024x447.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-768x336.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-1536x671.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team-640x280.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team.png 1904w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (SCN5A R225Q variant) and environmental factors (age and other pathogenic factors), and elucidated the underlying pathogenic mechanism (elevated intercellular pH and WNT\/\u03b2-catenin pathway activation). Therefore, for patients with dilated cardiomyopathy carrying some cardiac sodium channel gene mutations which might cause [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1736","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT\/\u03b2-catenin pathway (Contributed by Professor Aijun Sun) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-\u03b2-catenin-pathway\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT\/\u03b2-catenin pathway (Contributed by Professor Aijun Sun) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (SCN5A R225Q variant) and environmental factors (age and other pathogenic factors), and elucidated the underlying pathogenic mechanism (elevated intercellular pH and WNT\/\u03b2-catenin pathway activation). Therefore, for patients with dilated cardiomyopathy carrying some cardiac sodium channel gene mutations which might cause [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/06\/15\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-\u03b2-catenin-pathway\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-06-15T15:05:21+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:50:37+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/06\/team.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1904\" \/>\n\t<meta property=\"og:image:height\" content=\"832\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT\\\/\u03b2-catenin pathway (Contributed by Professor Aijun Sun)\",\"datePublished\":\"2022-06-15T15:05:21+00:00\",\"dateModified\":\"2026-02-23T00:50:37+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/\"},\"wordCount\":117,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/06\\\/team-300x131.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/06\\\/15\\\/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%ce%b2-catenin-pathway\\\/\",\"name\":\"Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular pH and WNT\\\/\u03b2-catenin pathway (Contributed by Professor Aijun Sun) - 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