{"id":695,"date":"2014-10-30T21:37:30","date_gmt":"2014-10-30T21:37:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=695"},"modified":"2026-02-25T19:37:19","modified_gmt":"2026-02-25T19:37:19","slug":"differential-increase-of-specific-fmr1-mrna-isoforms-in-premutation-carriers","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/30\/differential-increase-of-specific-fmr1-mrna-isoforms-in-premutation-carriers\/","title":{"rendered":"Differential increase of specific FMR1 mRNA isoforms in premutation carriers (Contributed by Dr. Dalyir Pretto)"},"content":{"rendered":"<p>RNA toxicity due to increased <em>FMR1<\/em> mRNA levels observed in premutation carriers is the leading molecular mechanism proposed for <em>FMR1<\/em> associated disorders. Our analysis comparing premutation carriers and control samples suggests that RNA toxicity may arise from increased expression levels of all <em>FMR1<\/em> mRNA isoforms. In addition, <em>Iso10 <\/em>and<em> Iso10b<\/em> transcripts, which lack important functional sites for FMRP function encoded in the missing C-terminal, are the most differentially expressed in premutation carriers relative to controls, suggesting a potential functional relevance in the pathology of <em>FMR1<\/em> associated premutation disorders. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/30\/jmedgenet-2014-102593\">http:\/\/jmg.bmj.com\/content\/early\/2014\/10\/30\/jmedgenet-2014-102593<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>RNA toxicity due to increased FMR1 mRNA levels observed in premutation carriers is the leading molecular mechanism proposed for FMR1 associated disorders. Our analysis comparing premutation carriers and control samples suggests that RNA toxicity may arise from increased expression levels of all FMR1 mRNA isoforms. In addition, Iso10 and Iso10b transcripts, which lack important functional [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/10\/30\/differential-increase-of-specific-fmr1-mrna-isoforms-in-premutation-carriers\/\">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-695","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Differential increase of specific FMR1 mRNA isoforms in premutation carriers (Contributed by Dr. Dalyir Pretto) - 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\/2014\/10\/30\/differential-increase-of-specific-fmr1-mrna-isoforms-in-premutation-carriers\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Differential increase of specific FMR1 mRNA isoforms in premutation carriers (Contributed by Dr. Dalyir Pretto) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"RNA toxicity due to increased FMR1 mRNA levels observed in premutation carriers is the leading molecular mechanism proposed for FMR1 associated disorders. Our analysis comparing premutation carriers and control samples suggests that RNA toxicity may arise from increased expression levels of all FMR1 mRNA isoforms. 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