{"id":1053,"date":"2025-10-29T05:56:33","date_gmt":"2025-10-29T05:56:33","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=8ea1831f6a97df6e8c2907ccf5867a88"},"modified":"2026-02-20T12:16:58","modified_gmt":"2026-02-20T12:16:58","slug":"analysis-of-muscle-and-blood-rna-samples-from-patients-with-myotonic-dystrophy-type-1-reveals-the-presence-of-new-mis-splicing-biomarkers-of-disease-severity","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/29\/analysis-of-muscle-and-blood-rna-samples-from-patients-with-myotonic-dystrophy-type-1-reveals-the-presence-of-new-mis-splicing-biomarkers-of-disease-severity\/","title":{"rendered":"Analysis of muscle and blood RNA samples from patients with myotonic dystrophy type 1 reveals the presence of new mis-splicing biomarkers of disease severity"},"content":{"rendered":"\n<sec><st>Background<\/st>\n<p>Myotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the <I>DMPK<\/I> gene. Biomarker discovery in DM1 is crucial for monitoring disease progression.<\/p>\n<\/sec>\n<sec><st>Methods<\/st>\n<p>We performed RNA sequencing on blood, skin and muscle samples from the same patients to assess splicing events. Mis-splicing events were identified using the Mann-Whitney U rank-sum test, and per cent spliced in for exons was correlated with repeat expansion size using Spearman&rsquo;s correlation. We also examined the relationship between mis-splicing and disease severity through Fisher&rsquo;s exact test and correlation analyses.<\/p>\n<\/sec>\n<sec><st>Results<\/st>\n<p>We identified 937, 384 and 1216 mis-splicing events in muscle, blood and skin, respectively. Of these, 52 exons in muscle and 10 in blood correlated with estimated progenitor allele length (false discovery rate (FDR) &lt;0.1), but none in skin. Notably, nine exons in blood correlated with total muscle mis-splicing (FDR&lt;0.05), suggesting their potential as biomarkers of severity.<\/p>\n<\/sec>\n<sec><st>Conclusion<\/st>\n<p>This is the first study to identify splicing dysregulation in blood and skin in patients with DM1 and identify novel potential blood-based mis-splicing biomarkers for disease severity. The correlation between several blood exons and the muscle splicing dysregulation indicates that blood-based biomarkers can be valuable for assessing disease severity, monitoring disease progression and evaluating treatment efficacy. Larger sample sizes may be necessary to clarify the relationship between mis-splicing and disease severity.<\/p>\n<\/sec>\n","protected":false},"excerpt":{"rendered":"<p>Background<br \/>\nMyotonic dystrophy type 1 (DM1) is a multisystem disorder with autosomal dominant inheritance, caused by the abnormal expansion of the CTG triplet in the DMPK gene. Biomarker discovery in DM1 is crucial for monitoring disease progression.<\/p>\n<p>&#8230;<\/p>\n","protected":false},"author":223,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[83],"class_list":["post-1053","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1053","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/223"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1053"}],"version-history":[{"count":3,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1053\/revisions"}],"predecessor-version":[{"id":9967,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1053\/revisions\/9967"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1053"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1053"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1053"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}