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Enteric nervous system disorders: genetic and molecular insights for the neurogastroenterologist


  • M. Camilleri

    1. Professor of Medicine and Physiology, Enteric Neuroscience Program, Gastroenterology Research Unit, Mayo Clinic and Mayo Foundation, Rochester, MN, USA
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Michael Camilleri MD Mayo Clinic, Charlton 7–154, 200 First St. S.W., Rochester, MN 55905, USA. Tel.: + 507 266 2305; e-mail:


The goals of this review are to summarize some of the novel observations on the genetic and molecular basis of enteric nervous system disorders, with particular emphasis on the relevance of these observations to the practicising neurogastroenterologist. In the last two decades, there has been a greater understanding of genetic loci involved in congenital forms of pseudo-obstruction and Hirschsprung’s disease; and the contribution of endothelins and nuclear transcription factors to the development of the enteric nervous system. In addition, clarification of the molecules involved in the activation of the peristaltic reflex, the disorders of the interstitial cells of Cajal, the clinical manifestations of mitochondrial cytopathies affecting the gut, and the application of neurotrophic factors for disorders of colonic function have impacted on practical management of patients with gut dysmotility.