Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility

The enteric nervous system (ENS) is the third division of the autonomic autonomic nervous system and the largest collection of neurons outside the central nervous system (CNS). The ENS has been referred to as “the brain in the gut” or “the second brain of the human body” because of its highly integ...

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Autores principales:	Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Chiara Diquigiovanni, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Elena Bonora, Roberto De Giorgio
Formato:	article
Lenguaje:	EN
Publicado:	PAGEPress Publications 2021
Materias:	Chronic intestinal pseudo-obstruction; Enteric neuropathies; Genes; Hirschsprung’s disease; Neuroprotection; 5-HT4 receptors. Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/38cb5a1f156c41da91e4e1b8dee00e58
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spelling	oai:doaj.org-article:38cb5a1f156c41da91e4e1b8dee00e582021-11-25T07:52:23ZNovel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility10.4081/ejh.2021.32891121-760X2038-8306https://doaj.org/article/38cb5a1f156c41da91e4e1b8dee00e582021-11-01T00:00:00Zhttps://ejh.it/index.php/ejh/article/view/3289https://doaj.org/toc/1121-760Xhttps://doaj.org/toc/2038-8306 The enteric nervous system (ENS) is the third division of the autonomic autonomic nervous system and the largest collection of neurons outside the central nervous system (CNS). The ENS has been referred to as “the brain in the gut” or “the second brain of the human body” because of its highly integrated neural circuits controlling a vast repertoire of gut functions, including absorption/secretion, splanchnic blood vessels, some immunological aspects, intestinal epithelial barrier, and gastrointestinal (GI) motility. The latter function is the result of the ENS fine-tuning over smooth musculature, along with the contribution of other key cells, such as enteric glia (astrocyte like cells supporting and contributing to neuronal activity), interstitial cells of Cajal (the pacemaker cells of the GI tract involved in neuromuscular transmission), and enteroendocrine cells (releasing bioactive substances, which affect gut physiology). Any noxa insult perturbing the ENS complexity may determine a neuropathy with variable degree of neuro-muscular dysfunction. In this review, we aim to cover the most recent update on genetic mechanisms leading to enteric neuropathies ranging from Hirschsprung’s disease (characterized by lack of any enteric neurons in the gut wall) up to more generalized form of dysmotility such as chronic intestinal pseudo-obstruction (CIPO) with a significant reduction of enteric neurons. In this line, we will discuss the role of the RAD21 mutation, which we have demonstrated in a family whose affected members exhibited severe gut dysmotility. Other genes contributing to gut motility abnormalities will also be presented. In conclusion, the knowledge on the molecular mechanisms involved in enteric neuropathy may unveil strategies to better manage patients with neurogenic gut dysmotility and pave the way to targeted therapies. Francesca BiancoGiulia LattanzioLuca LorenziniChiara DiquigiovanniMaurizio MazzoniPaolo ClavenzaniLaura CalzàLuciana GiardinoCatia SterniniElena BonoraRoberto De GiorgioPAGEPress PublicationsarticleChronic intestinal pseudo-obstruction; Enteric neuropathies; Genes; Hirschsprung’s disease; Neuroprotection; 5-HT4 receptors.Biology (General)QH301-705.5ENEuropean Journal of Histochemistry , Vol 65, Iss s1 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Chronic intestinal pseudo-obstruction; Enteric neuropathies; Genes; Hirschsprung’s disease; Neuroprotection; 5-HT4 receptors. Biology (General) QH301-705.5
spellingShingle	Chronic intestinal pseudo-obstruction; Enteric neuropathies; Genes; Hirschsprung’s disease; Neuroprotection; 5-HT4 receptors. Biology (General) QH301-705.5 Francesca Bianco Giulia Lattanzio Luca Lorenzini Chiara Diquigiovanni Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Elena Bonora Roberto De Giorgio Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
description	The enteric nervous system (ENS) is the third division of the autonomic autonomic nervous system and the largest collection of neurons outside the central nervous system (CNS). The ENS has been referred to as “the brain in the gut” or “the second brain of the human body” because of its highly integrated neural circuits controlling a vast repertoire of gut functions, including absorption/secretion, splanchnic blood vessels, some immunological aspects, intestinal epithelial barrier, and gastrointestinal (GI) motility. The latter function is the result of the ENS fine-tuning over smooth musculature, along with the contribution of other key cells, such as enteric glia (astrocyte like cells supporting and contributing to neuronal activity), interstitial cells of Cajal (the pacemaker cells of the GI tract involved in neuromuscular transmission), and enteroendocrine cells (releasing bioactive substances, which affect gut physiology). Any noxa insult perturbing the ENS complexity may determine a neuropathy with variable degree of neuro-muscular dysfunction. In this review, we aim to cover the most recent update on genetic mechanisms leading to enteric neuropathies ranging from Hirschsprung’s disease (characterized by lack of any enteric neurons in the gut wall) up to more generalized form of dysmotility such as chronic intestinal pseudo-obstruction (CIPO) with a significant reduction of enteric neurons. In this line, we will discuss the role of the RAD21 mutation, which we have demonstrated in a family whose affected members exhibited severe gut dysmotility. Other genes contributing to gut motility abnormalities will also be presented. In conclusion, the knowledge on the molecular mechanisms involved in enteric neuropathy may unveil strategies to better manage patients with neurogenic gut dysmotility and pave the way to targeted therapies.
format	article
author	Francesca Bianco Giulia Lattanzio Luca Lorenzini Chiara Diquigiovanni Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Elena Bonora Roberto De Giorgio
author_facet	Francesca Bianco Giulia Lattanzio Luca Lorenzini Chiara Diquigiovanni Maurizio Mazzoni Paolo Clavenzani Laura Calzà Luciana Giardino Catia Sternini Elena Bonora Roberto De Giorgio
author_sort	Francesca Bianco
title	Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
title_short	Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
title_full	Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
title_fullStr	Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
title_full_unstemmed	Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
title_sort	novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility
publisher	PAGEPress Publications
publishDate	2021
url	https://doaj.org/article/38cb5a1f156c41da91e4e1b8dee00e58
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Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility

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