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Commentary 10.1172/JCI146389

Hirschsprung disease and more: dysregulation of ERBB2 and ERBB3

Michael D. Gershon

Department of Pathology and Cell Biology, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.

Address correspondence to: Michael D. Gershon, 630 West 168th Street, P&S 12-403, New York, New York 10032, USA. Phone: 212.305.3447; Email: mdg4@cumc.columbia.edu.

Find articles by Gershon, M. in: JCI | PubMed | Google Scholar |

Published March 15, 2021 - More info

Published in Volume 131, Issue 6 on March 15, 2021
J Clin Invest. 2021;131(6):e146389. https://doi.org/10.1172/JCI146389.
© 2021 American Society for Clinical Investigation
Published March 15, 2021 - Version history
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The enteric nervous system mediates reflexes independently of the brain and spinal cord and transmits signals bidirectionally between the gut and the brain. Hirschsprung disease and chronic intestinal pseudo-obstruction (CIPO) and pediatric CIPO are examples of congenital defects that impair gastrointestinal motility. In this issue of the JCI, Thuy-Linh Le et al. analyzed eight patients with defects in tissue that arose from the neural crest. The patients carried homozygous or heterozygous variants in ERBB3 or ERBB2, which encode transmembrane epidermal growth factor receptors that bind neuroregulin 1 (NRG1). Notably, the genetic variants resulted in loss of function with decreased expression or aberrant phosphorylation of the ERBB3/ERBB2 receptors. Experiments using mice revealed that Erbb3 and Erbb2 were expressed in enteric neuronal progenitor cells. This study is an outstanding example of descriptive observation that begs for mechanistic exploration to reveal precisely how the NRG1/ERBB3/ERBB2 pathway influences ENS development.

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