Evaluating the molecular and genetic mechanisms underlying gut motility disorders

被引:1
作者
Chanpong, Atchariya [1 ,2 ]
Alves, Maria M. [3 ]
Bonora, Elena [4 ,5 ]
De Giorgio, Roberto [6 ]
Thapar, Nikhil [7 ,8 ,9 ,10 ]
机构
[1] Prince Songkla Univ, Fac Med, Dept Pediat, Div Gastroenterol & Hepatol, Hat Yai, Thailand
[2] Great Ormond St Hosp Sick Children, Gastroenterol Dept, Neurogastroenterol & Motil Unit, London, England
[3] Erasmus MC, Sophia Childrens Hosp, Dept Clin Genet, Rotterdam, Netherlands
[4] Univ Bologna, Dept Med & Surg Sci, DIMEC, Bologna, Italy
[5] IRCCS Azienda Osped Univ Bologna, UO Genet Med, AOUB, Bologna, Italy
[6] Univ Ferrara, Dept Translat Sci, Ferrara, Italy
[7] UCL Great Ormond St Inst Child Hlth, Stem Cells & Regenerat Med, London, England
[8] Queensland Childrens Hosp, Gastroenterol Hepatol & Liver Transplant, 501 Stanley St, Brisbane, Qld 4101,, Australia
[9] Univ Queensland, Sch Med, Brisbane, Australia
[10] Queensland Univ Technol, Woolworths Ctr Child Nutr Res, Brisbane, Australia
关键词
Intestinal motility disorders; genetics; molecular analysis; dysmotility; disorders of gut-brain interaction; NITRIC-OXIDE-SYNTHASE; HYPERTROPHIC PYLORIC-STENOSIS; ENTERIC NERVOUS-SYSTEM; INTESTINAL NEURONAL DYSPLASIA; LOSS-OF-FUNCTION; BOWEL-SYNDROME; INTERSTITIAL-CELLS; LINKAGE ANALYSIS; COMMON VARIANTS; ACHALASIA;
D O I
10.1080/17474124.2023.2296558
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
IntroductionGastrointestinal (GI) motility disorders comprise a wide range of different diseases affecting the structural or functional integrity of the GI neuromusculature. Their clinical presentation and burden of disease depends on the predominant location and extent of gut involvement as well as the component of the gut neuromusculature affected.Areas coveredA comprehensive literature review was conducted using the PubMed and Medline databases to identify articles related to GI motility and functional disorders, published between 2016 and 2023. In this article, we highlight the current knowledge of molecular and genetic mechanisms underlying GI dysmotility, including disorders of gut-brain interaction, which involve both GI motor and sensory disturbance.Expert opinionAlthough the pathophysiology and molecular mechanisms underlying many such disorders remain unclear, recent advances in the assessment of intestinal tissue samples, genetic testing with the application of 'omics' technologies and the use of animal models will provide better insights into disease pathogenesis as well as opportunities to improve therapy.
引用
收藏
页码:1301 / 1312
页数:12
相关论文
共 134 条
[71]  
Kusafuka T, 1997, PEDIATR SURG INT, V12, P576
[72]   Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans [J].
Le, Thuy-Linh ;
Galmiche, Louise ;
Levy, Jonathan ;
Suwannarat, Pim ;
Hellebrekers, Debby Mei ;
Morarach, Khomgrit ;
Boismoreau, Franck ;
Theunissen, Tom E. J. ;
Lefebvre, Mathilde ;
Pelet, Anna ;
Martinovic, Jelena ;
Gelot, Antoinette ;
Guimiot, Fabien ;
Calleroz, Amanda ;
Gitiaux, Cyril ;
Hully, Marie ;
Goulet, Olivier ;
Chardot, Christophe ;
Drunat, Severine ;
Capri, Yline ;
Bole-Feysot, Christine ;
Nitschke, Patrick ;
Whalen, Sandra ;
Mouthon, Linda ;
Babcock, Holly E. ;
Hofstra, Robert ;
de Coo, Irenaeus F. M. ;
Tabet, Anne-Claude ;
Molina, Thierry J. ;
Keren, Boris ;
Brooks, Alice ;
Smeets, Hubert J. M. ;
Marklund, Ulrika ;
Gordon, Christopher T. ;
Lyonnet, Stanislas ;
Amiel, Jeanne ;
Bondurand, Nadege .
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (06)
[73]   Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia [J].
Li, Quanlin ;
Chen, Weifeng ;
Wang, Cheng ;
Liu, Zuqiang ;
Gu, Yayun ;
Xu, Xiaoyue ;
Xu, Jiaxing ;
Jiang, Tao ;
Xu, Meidong ;
Wang, Yifeng ;
Chen, Congcong ;
Zhong, Yunshi ;
Zhang, Yiqun ;
Yao, Liqing ;
Jin, Guangfu ;
Hu, Zhibin ;
Zhou, Pinghong .
AMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (08) :1478-1487
[74]   A single-cell transcriptional landscape of immune cells shows disease-specific changes of T cell and macrophage populations in human achalasia [J].
Liu, Zu-Qiang ;
Dai, Hao ;
Yao, Lu ;
Chen, Wei-Feng ;
Wang, Yun ;
Ma, Li-Yun ;
Li, Xiao-Qing ;
Lin, Sheng-Li ;
He, Meng-Jiang ;
Gao, Ping-Ting ;
Liu, Xin-Yang ;
Xu, Jia-Xin ;
Xu, Xiao-Yue ;
Wang, Ke-Hao ;
Wang, Li ;
Chen, Luonan ;
Zhou, Ping-Hong ;
Li, Quan-Lin .
NATURE COMMUNICATIONS, 2023, 14 (01)
[75]   Mast cell infiltration associated with loss of interstitial cells of Cajal and neuronal degeneration in achalasia [J].
Liu, Zu-Qiang ;
Chen, Wei-Feng ;
Wang, Yun ;
Xu, Xiao-Yue ;
Zeng, Yi-Gang ;
Dillon, Dustin Lee ;
Cheng, Jing ;
Xu, Mei-Dong ;
Zhong, Yun-Shi ;
Zhang, Yi-Qun ;
Yao, Li-Qing ;
Zhou, Ping-Hong ;
Li, Quan-Lin .
NEUROGASTROENTEROLOGY AND MOTILITY, 2019, 31 (05)
[76]   Prox2 and Runx3 vagal sensory neurons regulate esophageal motility [J].
Lowenstein, Elijah D. ;
Ruffault, Pierre-Louis ;
Misios, Aristotelis ;
Osman, Kate L. ;
Li, Huimin ;
Greenberg, Rachel S. ;
Thompson, Rebecca ;
Song, Kun ;
Dietrich, Stephan ;
Li, Xun ;
Vladimirov, Nikita ;
Woehler, Andrew ;
Brunet, Jean-Francois ;
Zampieri, Niccolo ;
Kuhn, Ralf ;
Liberles, Stephen D. ;
Jia, Shiqi ;
Lewin, Gary R. ;
Rajewsky, Nikolaus ;
Lever, Teresa E. ;
Birchmeier, Carmen .
NEURON, 2023, 111 (14) :2184-+
[77]   Human Pluripotent Stem Cell-Based Models for Hirschsprung Disease: From 2-D Cell to 3-D Organoid Model [J].
Lui, Kathy Nga-Chu ;
Ngan, Elly Sau-Wai .
CELLS, 2022, 11 (21)
[78]   Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction [J].
Matera, Ivana ;
Rusmini, Marta ;
Guo, Yiran ;
Lerone, Margherita ;
Li, Jiankang ;
Zhang, Jianguo ;
Di Duca, Marco ;
Nozza, Paolo ;
Mosconi, Manuela ;
Prato, Alessio Pini ;
Martucciello, Giuseppe ;
Barabino, Arrigo ;
Morandi, Francesco ;
De Giorgio, Roberto ;
Stanghellini, Vincenzo ;
Ravazzolo, Roberto ;
Devoto, Marcella ;
Hakonarson, Hakon ;
Ceccherini, Isabella .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (08) :1211-1215
[79]   Stem cell therapy in severe pediatric motility disorders [J].
McCann, Conor J. ;
Borrelli, Osvaldo ;
Thapar, Nikhil .
CURRENT OPINION IN PHARMACOLOGY, 2018, 43 :145-149
[80]   Transplantation of enteric nervous system stem cells rescues nitric oxide synthase deficient mouse colon [J].
McCann, Conor J. ;
Cooper, Julie E. ;
Natarajan, Dipa ;
Jevans, Benjamin ;
Burnett, Laura E. ;
Burns, Alan J. ;
Thapar, Nikhil .
NATURE COMMUNICATIONS, 2017, 8