Apical Membrane Alterations in Non-intestinal Organs in Microvillus Inclusion Disease.

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

SUBMITTER: Schlegel C 

PROVIDER: S-EPMC5797493 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature