Impact of genetic polymorphisms on the pathogenesis of achalasia: an age-dependent paradigm?
A wealth of evidence supports the concept that achalasia represents an autoimmune disorder in which a triggering factor (probably a virus) is the starter of an uncontrolled myenteric ganglionitis leading to neurodegeneration. The reasons whereby this process occurs only in some individuals and at the oesophageal level are unknown, but it is reasonable to assume that some genetic influence may affect the achalasia phenotype, making some individuals more or less susceptible to the disease. Association studies between achalasia and polymorphisms of genes involved in the regulation of immune responses may help to explain the complexity of achalasia pathogenesis and progression.
Sarnelli
Giovanni
G
Department of Clinical and Experimental Medicine, University of Naples Federico II, Naples, Italy. sarnelli@unina.it
D000375:Aging / Q000502:physiology; D001327:Autoimmune Diseases / Q000473:pathology; D004931:Esophageal Achalasia / Q000235:genetics* / Q000276:immunology / Q000473:pathology*; D006801:Humans; D009474:Neurons / Q000473:pathology; D009569:Nitric Oxide / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D051238:Receptors, Vasoactive Intestinal Polypeptide, Type I / Q000235:genetics* / Q000378:metabolism; D014660:Vasoactive Intestinal Peptide / Q000235:genetics / Q000378:metabolism / Q000502:physiology
D051238:Receptors, Vasoactive Intestinal Polypeptide, Type I; D009569:Nitric Oxide; D014660:Vasoactive Intestinal Peptide