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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2025,12,16]]},"abstract":"<jats:p>\n                    Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy and severely affects multiple organ systems, including the brain, heart, skeletal muscle, and gastrointestinal (GI) tract. Despite 80% of individuals with DM1 experiencing GI dysfunction that affects their daily life, the mechanisms of GI dysmotility in DM1 remain an understudied aspect of the disease. DM1 is caused by a CTG repeat expansion in the\n                    <jats:italic toggle=\"yes\">DMPK<\/jats:italic>\n                    gene that, when expressed as an expanded CUG repeat RNA, sequesters and reduces the activity of the muscleblind-like (MBNL) RNA-binding protein family. We developed a mouse line with conditional, smooth muscle-specific knockout of\n                    <jats:italic toggle=\"yes\">Mbnl1<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">Mbnl2<\/jats:italic>\n                    to model and investigate myogenic mechanisms contributing to GI dysmotility in DM1. Mice with\n                    <jats:italic toggle=\"yes\">Mbnl<\/jats:italic>\n                    knockout exhibited delayed GI transit of small and large bowel in vivo and increased smooth muscle contractile tone of jejunum and colon segments ex vivo. Smooth muscle from the jejunum and colon showed no histopathology suggesting an intrinsic defect and contained increased phosphorylation of the 20 kDa myosin light chain (Mlc20), consistent with increased contraction. RNA sequencing of mouse and human DM1 GI samples enriched for smooth muscle revealed conserved misregulated alternative splicing of transcripts associated with the regulation of Mlc20 phosphorylation and smooth muscle contraction. These findings demonstrate that\n                    <jats:italic toggle=\"yes\">Mbnl<\/jats:italic>\n                    knockout disrupts the regulation of contraction dynamics and causes GI smooth muscle hyperactivity, suggesting that therapeutics that reduce GI contractile activity may improve DM1 GI symptoms.\n                  <\/jats:p>","DOI":"10.1073\/pnas.2522788122","type":"journal-article","created":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T19:23:40Z","timestamp":1765481020000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":2,"title":["MBNL loss of function in smooth muscle as a model for myotonic dystrophy associated gastrointestinal dysmotility"],"prefix":"10.1073","volume":"122","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8907-8581","authenticated-orcid":false,"given":"Janel A. M.","family":"Peterson","sequence":"first","affiliation":[{"name":"Department of Pathology & Immunology, Baylor College of Medicine","place":["Houston"]},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesus A.","family":"Frias","sequence":"additional","affiliation":[{"name":"Department of Pathology & Immunology, Baylor College of Medicine","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew N.","family":"Miller","sequence":"additional","affiliation":[{"name":"Department of Pathology & Immunology, Baylor College of Medicine","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishnakant G.","family":"Soni","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine and Texas Children\u2019s Hospital","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5680-4647","authenticated-orcid":false,"given":"Yi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Biomedical Engineering Department, Oregon Health and Science University","place":["Portland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3364-8324","authenticated-orcid":false,"given":"Zheng","family":"Xia","sequence":"additional","affiliation":[{"name":"Biomedical Engineering Department, Oregon Health and Science University","place":["Portland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W.","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Sciences, Stanford University","place":["Stanford"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2206-6452","authenticated-orcid":false,"given":"Geoffrey A.","family":"Preidis","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Baylor College of Medicine and Texas Children\u2019s Hospital","place":["Houston"]},{"name":"United States Department of Agriculture-Agricultural Research Service Children\u2019s Nutrition Research Center, Baylor College of Medicine","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9238-0578","authenticated-orcid":false,"given":"Thomas A.","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Pathology & Immunology, Baylor College of Medicine","place":["Houston"]},{"name":"Department of Integrative Physiology, Baylor College of Medicine","place":["Houston"]},{"name":"Department of Molecular and Cellular Biology, Baylor College of Medicine","place":["Houston"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2025,12,11]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"publisher","DOI":"10.1159\/000444018"},{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011425"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.23"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.03.059"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318260cbe6"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/ane.12788"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00394"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004420"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232314779"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(19)33359-1"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026603602444"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-63-5-793"},{"key":"e_1_3_4_13_2","first-page":"59","article-title":"Dysfunction of the alimentary tract in myotonic dystrophy","volume":"2","author":"Pruzanski W.","year":"1966","unstructured":"W. Pruzanski, A. Profis, Dysfunction of the alimentary tract in myotonic dystrophy. Isr. J. Med. Sci. 2, 59\u201364 (1966).","journal-title":"Isr. J. Med. Sci."},{"key":"e_1_3_4_14_2","first-page":"181","article-title":"Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: A case report","volume":"13","author":"Ghazaleh S.","year":"2020","unstructured":"S. Ghazaleh, C. Nehme, Y. Khader, S. Hasan, A. Nawras, Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy: A case report. Gastroenterol. Hepatol. Bed Bench 13, 181\u2013183 (2020).","journal-title":"Gastroenterol. Hepatol. 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