{"id":1700,"date":"2022-02-04T00:57:45","date_gmt":"2022-02-04T00:57:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1700"},"modified":"2026-02-23T01:05:15","modified_gmt":"2026-02-23T01:05:15","slug":"dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/","title":{"rendered":"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors)"},"content":{"rendered":"<p>Nephrolithiasis results from interaction between genetic and environmental factors. Calcium oxalate is the most common type of kidney stone. We report a novel genetic mechanism causing hyperoxaluria and nephrolithiasis. In one family, we detected a mutation within the SLC26A6 gene that encodes an oxalate transporter. This mutation impairs SLC26A6 function, which normally secretes oxalate in the intestine and thereby limits net absorption of dietary oxalate. Impaired SLC26A6 function therefore increases oxalate excretion into urine, promoting the development of kidney stones. Functional testing demonstrated that the mutated protein also has a dominant negative effect to impair the expression of the normal protein. Importantly, excessive oxalate absorption was reduced by increasing dietary calcium, resulting in correction of hyperoxaluria. Thus, identification of this mutation allowed an effective personalized therapeutic approach. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/03\/jmedgenet-2021-108256\">https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/03\/jmedgenet-2021-108256<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/unnamed-8\/\" rel=\"attachment wp-att-1701\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1701\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-300x127.jpg\" alt=\"\" width=\"300\" height=\"127\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-300x127.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-1024x435.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-768x326.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-1536x653.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-2048x870.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-640x272.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Nephrolithiasis results from interaction between genetic and environmental factors. Calcium oxalate is the most common type of kidney stone. We report a novel genetic mechanism causing hyperoxaluria and nephrolithiasis. In one family, we detected a mutation within the SLC26A6 gene that encodes an oxalate transporter. This mutation impairs SLC26A6 function, which normally secretes oxalate in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/\">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-1700","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>Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors) - 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\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Nephrolithiasis results from interaction between genetic and environmental factors. Calcium oxalate is the most common type of kidney stone. We report a novel genetic mechanism causing hyperoxaluria and nephrolithiasis. In one family, we detected a mutation within the SLC26A6 gene that encodes an oxalate transporter. This mutation impairs SLC26A6 function, which normally secretes oxalate in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-04T00:57:45+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:05:15+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1088\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors)\",\"datePublished\":\"2022-02-04T00:57:45+00:00\",\"dateModified\":\"2026-02-23T01:05:15+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/\"},\"wordCount\":162,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/02\\\/unnamed-300x127.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/04\\\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\\\/\",\"name\":\"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors) - 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This mutation impairs SLC26A6 function, which normally secretes oxalate in [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/","og_site_name":"JMG Contact blog","article_published_time":"2022-02-04T00:57:45+00:00","article_modified_time":"2026-02-23T01:05:15+00:00","og_image":[{"width":2560,"height":1088,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-scaled.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors)","datePublished":"2022-02-04T00:57:45+00:00","dateModified":"2026-02-23T01:05:15+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/"},"wordCount":162,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/unnamed-300x127.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/","url":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/04\/dominant-negative-mutation-in-oxalate-transporter-slc26a6-associated-with-enteric-hyperoxaluria-and-nephrolithiasis\/","name":"Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis (Contributed by Prof D Eladari on behalf of all co-authors) - 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