| Literature DB >> 24726755 |
Caroline L Wiegerinck1, Andreas R Janecke2, Kerstin Schneeberger1, Georg F Vogel3, Désirée Y van Haaften-Visser4, Johanna C Escher5, Rüdiger Adam6, Cornelia E Thöni7, Kristian Pfaller8, Alexander J Jordan6, Cleo-Aron Weis9, Isaac J Nijman10, Glen R Monroe10, Peter M van Hasselt11, Ernest Cutz12, Judith Klumperman13, Hans Clevers14, Edward E S Nieuwenhuis1, Roderick H J Houwen1, Gijs van Haaften10, Michael W Hess8, Lukas A Huber15, Janneke M Stapelbroek1, Thomas Müller16, Sabine Middendorp17.
Abstract
Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. Whole-exome sequencing of DNA from patients with variant MVID showed homozygous truncating mutations in syntaxin 3 (STX3). STX3 is an apical receptor involved in membrane fusion of apical vesicles in enterocytes. Patient-derived organoid cultures and overexpression of truncated STX3 in Caco-2 cells recapitulated most characteristics of variant MVID. We conclude that loss of STX3 function causes variant MVID.Entities:
Keywords: Epithelial Polarity; Syntaxin 3; Variant Microvillus Inclusion Disease
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Year: 2014 PMID： 24726755 DOI： 10.1053/j.gastro.2014.04.002
Source DB: PubMed Journal: Gastroenterology ISSN： 0016-5085 Impact factor: 22.682