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

来源：

EXPERT REVIEW OF GASTROENTEROLOGY & HEPATOLOGY | 2023年 / 17卷 / 12期

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

页码：1301 / 1312

页数：12

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