{"id":12690,"date":"2022-12-01T13:36:12","date_gmt":"2022-12-01T12:36:12","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12690"},"modified":"2022-12-01T13:36:12","modified_gmt":"2022-12-01T12:36:12","slug":"gene-of-the-month-november-hk1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/","title":{"rendered":"Gene of the Month \u2013 November: HK1"},"content":{"rendered":"<p>Variants in a regulatory region of the gene <em>HK1<\/em> result in the rare disorder of congenital hyperinsulinism. This has been reported in a study published in <em>Nature Genetics<\/em>. Coding <em>HK1<\/em> variants have previously been described to cause diseases such as hemolytic anemia, but they have not been associated with dysglycemia. The study provides an example of non-coding variants in a gene underlying a disease while coding mutations in the same gene do not cause the same condition.<\/p>\n<p><em>HK1<\/em> encodes hexokinase 1, a pivotal enzyme in glycolysis. It is ubiquitously expressed in all tissues except for pancreatic cells and liver cells, where it is silenced. The protein has an extremely high binding affinity to glucose. If <em>HK1<\/em> was expressed in these cells, an inappropriately high insulin secretion would occur even at normally low glucose levels. Using whole-genome sequencing, the authors of the study now identified 14 variants in a 42-bp regulatory region of <em>HK1<\/em> in patients with severe early-onset and persisting hyperinsulinism. Their analysis of epigenomic data in public repositories showed that this specific region is crucial for cell-specific silencing of the gene. Further investigations revealed that patients carrying the variants showed <em>HK1<\/em> expression in pancreatic beta cells.<\/p>\n<p>Congenital hyperinsulinism (CHI) is a disorder characterized by increased insulin secretion, leading to life-threatening hypoglycemic episodes, which, if untreated, might result in severe and irreversible brain damage. Although variants in more than 30 different genes have been described to underlie CHI, the genetic cause remains unknown in up to 50 % of children with persistent CHI.<\/p>\n[vc_column_text]Wakeling MN, Owens NDL, Hopkinson JR, \u2026 Flanagan SE. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. <em>Nat Genet.<\/em> 2022 Nov;54(11):1615-1620. doi: 10.1038\/s41588-022-01204-x. Epub 2022 Nov 4. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36333503&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism. This has been reported in a study published in Nature Genetics. Coding HK1 variants have previously been described to cause diseases such as hemolytic anemia, but they have not been associated with dysglycemia. The study provides an example [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12690","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-12-01T12:36:12+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month \u2013 November: HK1\",\"datePublished\":\"2022-12-01T12:36:12+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\"},\"wordCount\":331,\"commentCount\":0,\"articleSection\":[\"Gene of the Month\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\",\"name\":\"Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\"},\"datePublished\":\"2022-12-01T12:36:12+00:00\",\"author\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"description\":\"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.\",\"breadcrumb\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/www.humangenetik-umg.de\/en\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Gene of the Month \u2013 November: HK1\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/\",\"name\":\"Institut f\u00fcr Humangenetik\",\"description\":\"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\",\"name\":\"KB\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"caption\":\"KB\"},\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik","description":"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/","og_locale":"en_US","og_type":"article","og_title":"Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik","og_description":"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.","og_url":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/","og_site_name":"Institut f\u00fcr Humangenetik","article_published_time":"2022-12-01T12:36:12+00:00","author":"KB","twitter_card":"summary_large_image","twitter_misc":{"Written by":"KB","Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#article","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/"},"author":{"name":"KB","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"headline":"Gene of the Month \u2013 November: HK1","datePublished":"2022-12-01T12:36:12+00:00","mainEntityOfPage":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/"},"wordCount":331,"commentCount":0,"articleSection":["Gene of the Month"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/","url":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/","name":"Gene of the Month \u2013 November: HK1 - Institut f\u00fcr Humangenetik","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#website"},"datePublished":"2022-12-01T12:36:12+00:00","author":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"description":"Variants in a regulatory region of the gene HK1 result in the rare disorder of congenital hyperinsulinism.","breadcrumb":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-november-hk1\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.humangenetik-umg.de\/en\/"},{"@type":"ListItem","position":2,"name":"Gene of the Month \u2013 November: HK1"}]},{"@type":"WebSite","@id":"https:\/\/www.humangenetik-umg.de\/en\/#website","url":"https:\/\/www.humangenetik-umg.de\/en\/","name":"Institut f\u00fcr Humangenetik","description":"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675","name":"KB","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","caption":"KB"},"url":"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/"}]}},"_links":{"self":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/12690","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/comments?post=12690"}],"version-history":[{"count":0,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/12690\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/media?parent=12690"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/categories?post=12690"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/tags?post=12690"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}