{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T06:27:47Z","timestamp":1792650467213,"version":"4.5.0"},"reference-count":60,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Bologna","award":["2021-FAR.L-DR_018"],"award-info":[{"award-number":["2021-FAR.L-DR_018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Severe gut motility disorders are characterized by the ineffective propulsion of intestinal contents. As a result, the patients develop disabling\/distressful symptoms, such as nausea and vomiting along with altered bowel habits up to radiologically demonstrable intestinal sub-obstructive episodes. Chronic intestinal pseudo-obstruction (CIPO) is a typical clinical phenotype of severe gut dysmotility. This syndrome occurs due to changes altering the morpho-functional integrity of the intrinsic (enteric) innervation and extrinsic nerve supply (hence neuropathy), the interstitial cells of Cajal (ICC) (mesenchymopathy), and smooth muscle cells (myopathy). In the last years, several genes have been identified in different subsets of CIPO patients. The focus of this review is to cover the most recent update on enteric dysmotility related to CIPO, highlighting (a) forms with predominant underlying neuropathy, (b) forms with predominant myopathy, and (c) mitochondrial disorders with a clear gut dysfunction as part of their clinical phenotype. We will provide a thorough description of the genes that have been proven through recent evidence to cause neuro-(ICC)-myopathies leading to abnormal gut contractility patterns in CIPO. The discovery of susceptibility genes for this severe condition may pave the way for developing target therapies for enteric neuro-(ICC)-myopathies underlying CIPO and other forms of gut dysmotility.<\/jats:p>","DOI":"10.3390\/biom12121849","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T02:15:33Z","timestamp":1670811333000},"page":"1849","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction"],"prefix":"10.3390","volume":"12","author":[{"given":"Francesca","family":"Bianco","sequence":"first","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"},{"name":"Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Lattanzio","sequence":"additional","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Lorenzini","sequence":"additional","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7384-5990","authenticated-orcid":false,"given":"Maurizio","family":"Mazzoni","sequence":"additional","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Clavenzani","sequence":"additional","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Calz\u00e0","sequence":"additional","affiliation":[{"name":"IRET Foundation, 40064 Ozzano Emilia, Italy"},{"name":"Department of Pharmacy and Biotechnology, University of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana","family":"Giardino","sequence":"additional","affiliation":[{"name":"Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, Italy"},{"name":"IRET Foundation, 40064 Ozzano Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0492-1993","authenticated-orcid":false,"given":"Catia","family":"Sternini","sequence":"additional","affiliation":[{"name":"UCLA\/DDRC, Division of Digestive Diseases, Departments Medicine and Neurobiology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90001, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8644-1135","authenticated-orcid":false,"given":"Anna","family":"Costanzini","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bonora","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0867-5873","authenticated-orcid":false,"given":"Roberto","family":"De Giorgio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1136\/gut.2004.043968","article-title":"Advances in our understanding of the pathology of chronic intestinal pseudo-obstruction","volume":"53","author":"Sarnelli","year":"2004","journal-title":"Gut"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"101635","DOI":"10.1016\/j.bpg.2019.101635","article-title":"Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome","volume":"40\u201341","author":"Lindberg","year":"2019","journal-title":"Best Pract. 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