AI Article Synopsis
- - Microvillus inclusion disease (MVID) is caused by mutations in the MYO5B gene, leading to severe neonatal diarrhea due to issues with small intestine enterocytes that disrupt normal function.
- - A study on Navajo MVID patients revealed significant structural and functional alterations in the stomach, liver, and pancreas, including changes in important transport proteins and cell structures, while the colon and kidneys showed less severe implications.
- - The findings suggest that the MYO5B-P660L mutation impacts various organs beyond the intestines, indicating potential compensatory mechanisms in some tissues to manage altered apical trafficking functions.
Article Abstract
Objectives: Microvillus inclusion disease (MVID) is a severe form of neonatal diarrhea, caused mainly by mutations in MYO5B. Inactivating mutations in MYO5B causes depolarization of enterocytes in the small intestine, which gives rise to chronic, unremitting secretory diarrhea. While the pathology of the small intestine in MVID patients is well described, little is known about extraintestinal effects of MYO5B mutation.
Methods: We examined stomach, liver, pancreas, colon, and kidney in Navajo MVID patients, who share a single homozygous MYO5B-P660L (1979C>T p.Pro660Leu, exon 16). Sections were stained for markers of the apical membrane to assess polarized trafficking.
Results: Navajo MVID patients showed notable changes in H/K-ATPase-containing tubulovesicle structure in the stomach parietal cells. Colonic mucosa was morphologically normal, but did show losses in apical ezrin and Syntaxin 3. Hepatocytes in the MVID patients displayed aberrant canalicular expression of the essential transporters MRP2 and BSEP. The pancreas showed small fragmented islets and a decrease in apical ezrin in pancreatic ducts. Kidney showed normal primary cilia.
Conclusions: These findings indicate that the effects of the P660L mutation in MYO5B in Navajo MVID patients are not limited to the small intestine, but that certain tissues may be able to compensate functionally for alterations in apical trafficking.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797493 | PMC |
| http://dx.doi.org/10.1007/s10620-017-4867-5 | DOI Listing |
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