{"id":12927,"date":"2023-06-02T10:36:13","date_gmt":"2023-06-02T08:36:13","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12927"},"modified":"2023-06-02T10:36:13","modified_gmt":"2023-06-02T08:36:13","slug":"gene-of-the-month-may-fmr1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fmr1\/","title":{"rendered":"Gene of the Month &#8211; May: FMR1"},"content":{"rendered":"<p>A potential approach to correct the <em>FMR1 <\/em>gene defect underlying fragile X syndrome (FXS) relies on the body\u2019s own DNA repair mechanisms. This is described by researchers in the journal <em>Cell<\/em>. FXS is a neurodevelopmental disorder and one of the most common causes of inherited intellectual disability in male individuals. It stems from an expansion of a repeated trinucleotide DNA sequence (CGG) in the 5\u2019 region of the <em>FMR1<\/em> gene on the X chromosome. While, typically, individuals have on average 30 repeats of this CGG triplet in the <em>FMR1<\/em> gene, people with FXS carry an expansion of 200 repeats and more. This expansion adds methyl groups to the DNA, inhibiting gene transcription. As a result, FMR1 is silenced and its product, the <em>fragile X messenger ribonucleoprotein <\/em>(FMRP), is no longer formed. FMRP is important for brain development, with active roles for example in regulating the translation of synaptic proteins.<\/p>\n<p>In their study, the researchers used patient cell models to investigate conditions that would induce <em>FMR1<\/em> reactivation. They discovered that cells treated by inhibitors of the two kinases MEK and BRAF showed strongly contracted CGG repeat expansion and fully restored <em>FMR1<\/em> gene expression. They traced this contraction phenomenon to DNA demethylation and site-specific formation of R loops, i.e. loops involving DNA and RNA strands. A positive feedback loop involving demethylation, de novo <em>FMR1<\/em> transcription and R-loop formation triggered the cells\u2019 own mechanisms of DNA repair, which then excised the CGG repeat expansion. In their experiments, this occurred specifically for <em>FMR1<\/em>. The study thus describes a potential method for treating FXS in the future.<\/p>\n[vc_column_text]Lee HG, Imaichi S, Kraeutler E, Aguilar R, Lee YW, Sheridan SD, Lee JT. Site-specific R-loops induce CGG repeat contraction and fragile X gene reactivation. <em>Cell<\/em>. 2023 May 16:S0092-8674(23)00469-5. doi: 10.1016\/j.cell.2023.04.035. Epub ahead of print. [\/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\/37209683&#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>A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body\u2019s own DNA repair mechanisms. This is described by researchers in the journal Cell. FXS is a neurodevelopmental disorder and one of the most common causes of inherited intellectual disability in male individuals. It stems from an expansion [&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-12927","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 - May: FMR1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body\u2019s own DNA repair mechanisms.\" \/>\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-may-fmr1\/\" \/>\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 - May: FMR1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A potential approach to correct the FMR1 gene defect underlying fragile X syndrome (FXS) relies on the body\u2019s own DNA repair mechanisms.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fmr1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2023-06-02T08:36:13+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-may-fmr1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fmr1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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