Editorial
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World J Gastrointest Pathophysiol. Nov 15, 2013; 4(4): 65-73
Published online Nov 15, 2013. doi: 10.4291/wjgp.v4.i4.65
Genetic contribution to motility disorders of the upper gastrointestinal tract
Giovanni Sarnelli, Alessandra D’Alessandro, Marcella Pesce, Ilaria Palumbo, Rosario Cuomo
Giovanni Sarnelli, Alessandra D’Alessandro, Marcella Pesce, Ilaria Palumbo, Rosario Cuomo, Gastroenterology Unit, Department of Clinical Medicine and Surgery, University of Naples “Federico II”, 80131 Naples, Italy
Author contributions: Sarnelli G contributed to the conception, made revisions and helped in writing; D’Alessandro A and Pesce M wrote the paper and contributed to revision of the literature; Palumbo I provided supportive contributions; Cuomo R contributed to revision of the literature.
Correspondence to: Giovanni Sarnelli, MD, PhD, Gastroenterology Unit, Department of Clinical Medicine and Surgery, University of Naples “Federico II”, Via Sergio Pansini, 5, 80131 Naples, Italy. sarnelli@unina.it
Telephone: +39-81-7463488 Fax: +39-81-7462753
Received: June 27, 2013
Revised: August 9, 2013
Accepted: October 17, 2013
Published online: November 15, 2013
Processing time: 140 Days and 13.8 Hours
Abstract

Motility disorders of the upper gastrointestinal tract encompass a wide range of different diseases. Esophageal achalasia and functional dyspepsia are representative disorders of impaired motility of the esophagus and stomach, respectively. In spite of their variable prevalence, what both diseases have in common is poor knowledge of their etiology and pathophysiology. There is some evidence showing that there is a genetic predisposition towards these diseases, especially for achalasia. Many authors have investigated the possible genes involved, stressing the autoimmune or the neurological hypothesis, but there is very little data available. Similarly, studies supporting a post-infective etiology, based on an altered immune response in susceptible individuals, need to be validated. Further association studies can help to explain this complex picture and find new therapeutic targets. The aim of this review is to summarize current knowledge of genetics in motility disorders of the upper gastrointestinal tract, addressing how genetics contributes to the development of achalasia and functional dyspepsia respectively.

Keywords: Achalasia; Functional dyspepsia; Genetic predisposition; Hypertrophic pyloric stenosis; Motility disorder

Core tip: Achalasia, functional dyspepsia and hypertrophic pyloric stenosis represent the main motility disorders of upper gastrointestinal tract. All these diseases have a less known pathophysiology and a presumable genetic predisposition in common. This review outlines the current knowledge on genes involved in the onset of these pathologies in order to promote further association studies which can help to explain this complex picture and find new therapeutic targets.