title: Achalasia: will genetic studies provide insights?
abstract: Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.
authors.affiliation: Department of General and Abdominal Surgery, Johannes Gutenberg University, Langenbeckstr. 1, 55131, Mainz, Germany.
authors.forename: Henning R
authors.initials: HR
authors.lastname: Gockel
authors.forename: Johannes
authors.initials: J
authors.lastname: Schumacher
authors.forename: Ines
authors.initials: I
authors.lastname: Gockel
authors.forename: Hauke
authors.initials: H
authors.lastname: Lang
authors.forename: Thomas
authors.initials: T
authors.lastname: Haaf
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000818:Animals; D004931:Esophageal Achalasia / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D051100:Glial Cell Line-Derived Neurotrophic Factor / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008565:Membrane Proteins; D051379:Mice; D018345:Mice, Knockout; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics
chemical_list: D051100:Glial Cell Line-Derived Neurotrophic Factor; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C485561:SPRY2 protein, human; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human