{"id":13482,"date":"2024-05-03T10:25:59","date_gmt":"2024-05-03T08:25:59","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=13482"},"modified":"2024-05-03T10:25:59","modified_gmt":"2024-05-03T08:25:59","slug":"gene-of-the-month-april-cacna1c","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-cacna1c\/","title":{"rendered":"Gene of the Month &#8211; April: CACNA1C"},"content":{"rendered":"<p>A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat a severe neurodevelopmental disorder. <em>CACNA1C<\/em> codes for the \u03b11C subunit of the L-type voltage-gated calcium channel Ca<sub>v<\/sub>1.2. Autosomal dominant mutations in <em>CACNA1C<\/em> cause Timothy syndrome, a rare disease characterized by multisystemic defects and malformations, autism, epilepsy and other neurodevelopmental problems as well as a severe and life-threatening cardiac involvement in the form of a long QT syndrome.<\/p>\n<p>Patients with Timothy syndrome type 1 carry the specific heterozygous missense variant c.1216G&gt;A in the alternatively spliced exon 8A of <em>CACNA1C<\/em>. This variant promotes inclusion of the mutated exon 8A in splicing. Conferring a gain of function of the protein, the variant results in delayed channel inactivation and increased calcium entry into the cell, leading to enhanced neural excitability. In a study now published in <em>Nature<\/em>, a team of researchers developed antisense oligonucleotides (ASO) that decrease exon 8A inclusion in neural cells and effect a switch to exon 8 utilization. Their experiments in patient-derived cell models and in rats transplanted with human neurons demonstrated that ASO administration effectively rescued delayed calcium channel inactivation and changes in calcium entry into the cell.<\/p>\n[vc_column_text]Chen X, Birey F, Li MY, Revah O, \u2026 Pa\u0219ca SP. Antisense oligonucleotide therapeutic approach for Timothy syndrome. <em>Nature<\/em>. 2024 Apr;628(8009):818-825. doi: 10.1038\/s41586-024-07310-6. Epub 2024 Apr 24. [\/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\/38658687&#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<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat a severe neurodevelopmental disorder. CACNA1C codes for the \u03b11C subunit of the L-type voltage-gated calcium channel Cav1.2. Autosomal dominant mutations in CACNA1C cause Timothy syndrome, a rare disease characterized by multisystemic [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-13482","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 - April: CACNA1C - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat Timothy syndrome.\" \/>\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-april-cacna1c\/\" \/>\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 - April: CACNA1C - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A novel gene therapy approach using antisense oligonucleotides to modulate the production of specific isoforms of CACNA1C might provide a new strategy to treat Timothy syndrome.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-cacna1c\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2024-05-03T08:25:59+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-april-cacna1c\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-cacna1c\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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