Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction
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. C...
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MDPI AG
2022-12-01
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| Series: | Biomolecules |
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| author | Francesca Bianco Giulia Lattanzio Luca Lorenzini Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Anna Costanzini Elena Bonora Roberto De Giorgio |
| author_facet | Francesca Bianco Giulia Lattanzio Luca Lorenzini Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Anna Costanzini Elena Bonora Roberto De Giorgio |
| author_sort | Francesca Bianco |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T17:16:21Z |
| format | Article |
| id | doaj.art-89c93a2285614ca999f98c17887b6fb1 |
| institution | Directory Open Access Journal |
| issn | 2218-273X |
| language | English |
| last_indexed | 2024-03-09T17:16:21Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj.art-89c93a2285614ca999f98c17887b6fb12023-11-24T13:34:26ZengMDPI AGBiomolecules2218-273X2022-12-011212184910.3390/biom12121849Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-ObstructionFrancesca Bianco0Giulia Lattanzio1Luca Lorenzini2Maurizio Mazzoni3Paolo Clavenzani4Laura Calzà5Luciana Giardino6Catia Sternini7Anna Costanzini8Elena Bonora9Roberto De Giorgio10Department of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyDepartment of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyDepartment of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyDepartment of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyDepartment of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyIRET Foundation, 40064 Ozzano Emilia, ItalyDepartment of Veterinary Sciences, University of Bologna, 40064 Ozzano Emilia, ItalyUCLA/DDRC, Division of Digestive Diseases, Departments Medicine and Neurobiology, David Geffen School of Medicine, UCLA, Los Angeles, CA 90001, USADepartment of Translational Medicine, University of Ferrara, 44121 Ferrara, ItalyDepartment of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, ItalyDepartment of Translational Medicine, University of Ferrara, 44121 Ferrara, ItalySevere 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.https://www.mdpi.com/2218-273X/12/12/1849chronic intestinal pseudo-obstructionenteric neuropathiesgenesneuro-myopathiesmitochondrial disorders |
| spellingShingle | Francesca Bianco Giulia Lattanzio Luca Lorenzini Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Anna Costanzini Elena Bonora Roberto De Giorgio Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction Biomolecules chronic intestinal pseudo-obstruction enteric neuropathies genes neuro-myopathies mitochondrial disorders |
| title | Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction |
| title_full | Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction |
| title_fullStr | Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction |
| title_full_unstemmed | Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction |
| title_short | Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction |
| title_sort | enteric neuromyopathies highlights on genetic mechanisms underlying chronic intestinal pseudo obstruction |
| topic | chronic intestinal pseudo-obstruction enteric neuropathies genes neuro-myopathies mitochondrial disorders |
| url | https://www.mdpi.com/2218-273X/12/12/1849 |
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