{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T11:33:03Z","timestamp":1793705583915,"version":"4.5.1"},"posted":{"date-parts":[[2026,4,15]]},"group-title":"Neuroscience","reference-count":47,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T00:00:00Z","timestamp":1776211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"award":["R01AG066768"],"award-info":[{"award-number":["R01AG066768"]}],"id":[{"id":"https:\/\/ror.org\/049v75w11","id-type":"ROR","asserted-by":"publisher"}]},{"award":["R21AG072107"],"award-info":[{"award-number":["R21AG072107"]}],"id":[{"id":"https:\/\/ror.org\/049v75w11","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Harvard Digestive Disease Core, Harvard University","award":["Pilot and Feasability Grant"],"award-info":[{"award-number":["Pilot and Feasability Grant"]}],"id":[{"id":"https:\/\/ror.org\/03vek6s52","id-type":"ROR","asserted-by":"crossref"}]},{"name":"TUBITAK 2214-A International Research Fellowship Program"},{"name":"Burroughs Wellcome Fund","award":["Maryland Genetics, Epidemiology, and Medicine training program"],"award-info":[{"award-number":["Maryland Genetics, Epidemiology, and Medicine training program"]}],"id":[{"id":"https:\/\/ror.org\/01d35cw23","id-type":"ROR","asserted-by":"crossref"}]},{"award":["T32GM148383"],"award-info":[{"award-number":["T32GM148383"]}],"id":[{"id":"https:\/\/ror.org\/04q48ey07","id-type":"ROR","asserted-by":"publisher"}]},{"award":["528835020"],"award-info":[{"award-number":["528835020"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,11,3]]},"abstract":"<jats:p>Gastrointestinal (GI) dysmotility is a highly prevalent and clinically significant feature of Rett syndrome (RTT), yet its underlying mechanisms remain poorly defined. Here, we investigated these mechanisms of GI dysmotility in a Mecp2null mouse model of RTT. First, we observed that MeCP2 was expressed in murine myenteric ganglia, including in enteric neurons and that Mecp2null males developed maturation associated functional regression in their GI motility. In dysmotile mice, longitudinal muscle myenteric plexus tissue showed marked reductions in enteric Bdnf isoforms IV, VI, and II, whereas expression of the BDNF receptor isoforms TrkB.FL and TrkB.T1 was not significantly altered, consistent with reduced enteric BDNF TrkB signaling. Despite impaired GI motility, Mecp2null mice showed no significant changes in total enteric neuronal density, nitrergic neuronal abundance, or expression of Nos1, Chat, and Uchl1. In contrast, Vip expression was significantly reduced, while expression of VIP receptor genes: Vipr1 and Vipr2 was increased, indicating disrupted VIPergic signaling. Integration with publicly available enteric single-cell\/nucleus datasets and targeted qRTPCR further suggested altered inhibitory neuronal subtype composition, with reduced Vip+ Cartpt+ signatures and increased Nfia expression, suggesting that MeCP2 loss differentially affects distinct inhibitory neuronal subpopulations. Finally, conditional loss of TrkB.FL in neural crest-derived cells reduced Vip expression without recapitulating the full Mecp2null VIPergic phenotype, indicating that impaired BDNF TrkB signaling contributes to, but does not completely explain, the GI dysmotility in this model of RTT. Together, these findings identify enteric BDNF TrkB and VIPergic dysfunction as key mechanisms underlying GI dysmotility in RTT.<\/jats:p>","DOI":"10.64898\/2026.04.12.718037","type":"posted-content","created":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T14:35:17Z","timestamp":1776263717000},"source":"Crossref","is-referenced-by-count":0,"title":["Reduced enteric Bdnf expression and TrkB-dependent regulation of Vip in a Mecp2-null mouse model of Rett syndrome-associated gastrointestinal dysmotility"],"prefix":"10.64898","author":[{"given":"Srinivas N","family":"Puttapaka","sequence":"first","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Israel Abebe","family":"Admasu","sequence":"additional","affiliation":[{"name":"F.M.Kirby Neurobiology Center, Boston Childrens Hospital, Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainsleigh","family":"Scott","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gamze","family":"Sonmez","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippa","family":"Seika","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahalakshmi","family":"Rajkumar","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Valencia","sequence":"additional","affiliation":[{"name":"F.M.Kirby Neurobiology Center, Boston Childrens Hospital, Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan","family":"Consorti","sequence":"additional","affiliation":[{"name":"F.M.Kirby Neurobiology Center, Boston Childrens Hospital, Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su Min","family":"Hong","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jared","family":"Slosberg","sequence":"additional","affiliation":[{"name":"Johns Hopkins University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Fagiolini","sequence":"additional","affiliation":[{"name":"F.M.Kirby Neurobiology Center, Boston Childrens Hospital, Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2298-0623","authenticated-orcid":false,"given":"Subhash","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"Beth Israel Deaconess Medical Center - Harvard Medical School;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"54368","reference":[{"key":"2026041810551200000_2026.04.12.718037v1.1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-014-8295-9"},{"key":"2026041810551200000_2026.04.12.718037v1.2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22124"},{"key":"2026041810551200000_2026.04.12.718037v1.3","doi-asserted-by":"publisher","DOI":"10.1038\/s41583-018-0006-3"},{"key":"2026041810551200000_2026.04.12.718037v1.4","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31824b6159"},{"key":"2026041810551200000_2026.04.12.718037v1.5","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00018.2022"},{"issue":"9","key":"2026041810551200000_2026.04.12.718037v1.6","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nrgastro.2016.107","article-title":"The bowel and beyond: the enteric nervous system in neurological disorders","volume":"13","year":"2016","journal-title":"Nat Rev Gastroenterol Hepatol"},{"issue":"11","key":"2026041810551200000_2026.04.12.718037v1.7","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1111\/nmo.12873","article-title":"Activity and MeCP2-dependent regulation of nNOS levels in enteric neurons","volume":"28","year":"2016","journal-title":"Neurogastroenterol Motil"},{"issue":"8","key":"2026041810551200000_2026.04.12.718037v1.8","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1111\/nmo.12605","article-title":"MeCP2 in the enteric nervous system","volume":"27","year":"2015","journal-title":"Neurogastroenterol Motil"},{"key":"2026041810551200000_2026.04.12.718037v1.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.09.037"},{"key":"2026041810551200000_2026.04.12.718037v1.10","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.19374"},{"key":"2026041810551200000_2026.04.12.718037v1.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2005.12.027"},{"key":"2026041810551200000_2026.04.12.718037v1.12","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2007.131839"},{"key":"2026041810551200000_2026.04.12.718037v1.13","doi-asserted-by":"crossref","unstructured":"Bonfiglio, F. , et al., GWAS of stool frequency provides insights into gastrointestinal motility and irritable bowel syndrome. Cell Genom, 2021. 1(3): p. None.","DOI":"10.1016\/j.xgen.2021.100069"},{"key":"2026041810551200000_2026.04.12.718037v1.14","doi-asserted-by":"publisher","DOI":"10.1111\/apha.12374"},{"key":"2026041810551200000_2026.04.12.718037v1.15","doi-asserted-by":"crossref","unstructured":"Slosberg, J. , and Puttapaka, S.N. , et al., Reduced enteric BDNF-TrkB signaling drives glucocorticoid-mediated GI dysmotility. bioRxiv, 2024.","DOI":"10.1101\/2024.12.13.628260"},{"key":"2026041810551200000_2026.04.12.718037v1.16","doi-asserted-by":"crossref","unstructured":"Gorecki, A.M. and Slosberg, J. , et al. , Detection of mitotic neuroblasts provides additional evidence of steady state neurogenesis in the adult small intestinal myenteric plexus . eneuro, 2025: p. ENEURO.0005-24.2025.","DOI":"10.1523\/ENEURO.0005-24.2025"},{"issue":"1","key":"2026041810551200000_2026.04.12.718037v1.17","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s12864-025-12283-5","article-title":"Building consensus: construction of a juvenile and adult scRNA-seq meta-atlas for dataset comparisons and harmonizing transcriptomic definitions of enteric neuron subtypes","volume":"27","year":"2026","journal-title":"BMC Genomics"},{"key":"2026041810551200000_2026.04.12.718037v1.18","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00038.2024"},{"key":"2026041810551200000_2026.04.12.718037v1.19","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1619406114"},{"issue":"1-2","key":"2026041810551200000_2026.04.12.718037v1.20","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/j.autneu.2011.06.003","article-title":"Neuronal loss and abnormal BMP\/Smad signaling in the myenteric plexus of diabetic rats","volume":"164","year":"2011","journal-title":"Auton Neurosci"},{"key":"2026041810551200000_2026.04.12.718037v1.21","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.03.009"},{"key":"2026041810551200000_2026.04.12.718037v1.22","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00416.2013"},{"issue":"12","key":"2026041810551200000_2026.04.12.718037v1.23","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1038\/s41590-025-02325-1","article-title":"Enteric nervous system-derived VIP restrains differentiation of LGR5+ stem cells toward the secretory lineage impeding type 2 immune programs","volume":"26","year":"2025","journal-title":"Nature Immunology"},{"key":"2026041810551200000_2026.04.12.718037v1.24","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2020.09.032"},{"key":"2026041810551200000_2026.04.12.718037v1.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2019.146644"},{"key":"2026041810551200000_2026.04.12.718037v1.26","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds406"},{"key":"2026041810551200000_2026.04.12.718037v1.27","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt421"},{"key":"2026041810551200000_2026.04.12.718037v1.28","doi-asserted-by":"publisher","DOI":"10.1172\/JCI78167"},{"key":"2026041810551200000_2026.04.12.718037v1.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2013.03.024"},{"key":"2026041810551200000_2026.04.12.718037v1.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.01.014"},{"key":"2026041810551200000_2026.04.12.718037v1.31","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.55639"},{"issue":"12","key":"2026041810551200000_2026.04.12.718037v1.32","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1038\/s41590-025-02326-0","article-title":"Neuroepithelial VIP\u2013VIPR1 interactions differentially control enteric type 1 and type 2 immunity","volume":"26","year":"2025","journal-title":"Nature Immunology"},{"key":"2026041810551200000_2026.04.12.718037v1.33","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00081.2017"},{"issue":"2","key":"2026041810551200000_2026.04.12.718037v1.34","first-page":"161","article-title":"Differential expression of vasoactive intestinal peptide receptor 1 expression in inflammatory bowel disease","volume":"20","year":"2007","journal-title":"Int J Mol Med"},{"key":"2026041810551200000_2026.04.12.718037v1.35","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012067"},{"key":"2026041810551200000_2026.04.12.718037v1.36","doi-asserted-by":"publisher","DOI":"10.1093\/intimm\/dxl103"},{"key":"2026041810551200000_2026.04.12.718037v1.37","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00416.2013"},{"key":"2026041810551200000_2026.04.12.718037v1.38","doi-asserted-by":"publisher","DOI":"10.1210\/en.2003-1058"},{"key":"2026041810551200000_2026.04.12.718037v1.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.peptides.2013.03.008"},{"issue":"1","key":"2026041810551200000_2026.04.12.718037v1.40","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s40168-016-0185-y","article-title":"Altered gut microbiota in Rett syndrome","volume":"4","year":"2016","journal-title":"Microbiome"},{"issue":"1","key":"2026041810551200000_2026.04.12.718037v1.41","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1038\/s42003-021-02915-3","article-title":"Sex disparate gut microbiome and metabolome perturbations precede disease progression in a mouse model of Rett syndrome","volume":"4","year":"2021","journal-title":"Communications Biology"},{"key":"2026041810551200000_2026.04.12.718037v1.42","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2039-9"},{"issue":"1","key":"2026041810551200000_2026.04.12.718037v1.43","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1016\/j.mucimm.2026.01.006","article-title":"Neuronal VIP wires the intestinal epithelial cell function","volume":"19","year":"2026","journal-title":"Mucosal Immunology"},{"issue":"3","key":"2026041810551200000_2026.04.12.718037v1.44","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1038\/s41385-020-00368-1","article-title":"The intestinal neuro-immune axis: crosstalk between neurons, immune cells, and microbes","volume":"14","year":"2021","journal-title":"Mucosal Immunology"},{"key":"2026041810551200000_2026.04.12.718037v1.45","doi-asserted-by":"publisher","DOI":"10.1016\/j.peptides.2005.12.015"},{"key":"2026041810551200000_2026.04.12.718037v1.46","doi-asserted-by":"publisher","DOI":"10.1126\/science.abd6176"},{"key":"2026041810551200000_2026.04.12.718037v1.47","doi-asserted-by":"crossref","unstructured":"Kyle, S.M. , N. Vashi , and M.J. Justice , Rett syndrome: a neurological disorder with metabolic components. Open Biol, 2018. 8(2).","DOI":"10.1098\/rsob.170216"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.64898\/2026.04.12.718037","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T11:15:28Z","timestamp":1793704528000},"score":1,"resource":{"primary":{"URL":"http:\/\/biorxiv.org\/lookup\/doi\/10.64898\/2026.04.12.718037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,15]]},"references-count":47,"URL":"https:\/\/doi.org\/10.64898\/2026.04.12.718037","relation":{},"subject":[],"published":{"date-parts":[[2026,4,15]]},"subtype":"preprint"}}