{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T07:46:19Z","timestamp":1788335179477,"version":"build-2803163510"},"reference-count":110,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["NS048843"],"award-info":[{"award-number":["NS048843"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["NS103172"],"award-info":[{"award-number":["NS103172"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003975","name":"Myotonic Dystrophy Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003975","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Florida McKnight Brain Institute"},{"name":"Muscular Dystrophy Association Developmental","award":["MDA546770"],"award-info":[{"award-number":["MDA546770"]}]},{"name":"Schmitt Program in Integrative Neuroscience"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,10,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3\u2032 untranslated region. These expanded repeats are transcribed and produce toxic CUG RNAs that sequester and inhibit activities of the MBNL family of developmental RNA processing factors. Although myotonic dystrophy is classified as a muscular dystrophy, the brain is also severely affected by an unusual cohort of symptoms, including hypersomnia, executive dysfunction, as well as early onsets of tau\/MAPT pathology and cerebral atrophy. To address the molecular and cellular events that lead to these pathological outcomes, we recently generated a mouse Dmpk CTG expansion knock-in model and identified choroid plexus epithelial cells as particularly affected by the expression of toxic CUG expansion RNAs.<\/jats:p>\n                  <jats:p>To determine if toxic CUG RNAs perturb choroid plexus functions, alternative splicing analysis was performed on lateral and hindbrain choroid plexi from Dmpk CTG knock-in mice. Choroid plexus transcriptome-wide changes were evaluated in Mbnl2 knockout mice, a developmental-onset model of myotonic dystrophy brain dysfunction. To determine if transcriptome changes also occurred in the human disease, we obtained post-mortem choroid plexus for RNA-seq from neurologically unaffected (two females, three males; ages 50\u201370 years) and myotonic dystrophy type 1 (one female, three males; ages 50\u201370 years) donors. To test that choroid plexus transcriptome alterations resulted in altered CSF composition, we obtained CSF via lumbar puncture from patients with myotonic dystrophy type 1 (five females, five males; ages 35\u201355 years) and non-myotonic dystrophy patients (three females, four males; ages 26\u201351 years), and western blot and osmolarity analyses were used to test CSF alterations predicted by choroid plexus transcriptome analysis.<\/jats:p>\n                  <jats:p>We determined that CUG RNA induced toxicity was more robust in the lateral choroid plexus of Dmpk CTG knock-in mice due to comparatively higher Dmpk and lower Mbnl RNA levels. Impaired transitions to adult splicing patterns during choroid plexus development were identified in Mbnl2 knockout mice, including mis-splicing previously found in Dmpk CTG knock-in mice. Whole transcriptome analysis of myotonic dystrophy type 1 choroid plexus revealed disease-associated RNA expression and mis-splicing events. Based on these RNA changes, predicted alterations in ion homeostasis, secretory output and CSF composition were confirmed by analysis of myotonic dystrophy type 1 CSF. Our results implicate choroid plexus spliceopathy and concomitant alterations in CSF homeostasis as an unappreciated contributor to myotonic dystrophy type 1 CNS pathogenesis.<\/jats:p>","DOI":"10.1093\/brain\/awad148","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T01:16:12Z","timestamp":1683249372000},"page":"4217-4232","source":"Crossref","is-referenced-by-count":16,"title":["Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5593-6197","authenticated-orcid":false,"given":"Curtis A","family":"Nutter","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin M","family":"Kidd","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmut A","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna I","family":"Hamel","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14642 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip M","family":"Mackie","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayha","family":"Kumbkarni","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mackenzie L","family":"Davenport","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana M","family":"Tuyn","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adithya","family":"Gopinath","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter D","family":"Creigh","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Rochester , Rochester, NY 14642 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0141ukasz J","family":"Sznajder","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric T","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9808-9661","authenticated-orcid":false,"given":"Laura P W","family":"Ranum","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, McKnight Brain Institute and the Fixel Institute for Neurological Diseases, College of Medicine, University of Florida , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Habibeh","family":"Khoshbouei","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, McKnight Brain Institute, College of Medicine, University of Florida , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John W","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Sciences, Stanford University School of Medicine , Stanford, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinda B","family":"Sampson","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurological Sciences, Stanford University School of Medicine , Stanford, CA 94304 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Prokop","sequence":"additional","affiliation":[{"name":"Department of Pathology, Immunology, and Laboratory Medicine, Center for Translational Research in Neurodegenerative Disease, McKnight Brain Institute and the Fixel Institute for Neurological Diseases, College of Medicine, University of Florida , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurice S","family":"Swanson","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, Center for NeuroGenetics and the Genetics Institute, University of Florida, College of Medicine , Gainesville, FL 32610 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"2023100302135205700_awad148-B1","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/nrn.2016.27","article-title":"The neurogenetics of alternative splicing","volume":"17","author":"Vuong","year":"2016","journal-title":"Nat Rev Neurosci"},{"key":"2023100302135205700_awad148-B2","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/nrm.2016.139","article-title":"The roles of RNA processing in translating genotype to phenotype","volume":"18","author":"Manning","year":"2017","journal-title":"Nat Rev Mol Cell 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