Loss of syntaxin 3 causes variant microvillus inclusion disease

Caroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, Georg F Vogel, Désirée Y van Haaften-Visser, Johanna C Escher, Rüdiger Adam, Cornelia E Thöni, Kristian Pfaller, Alexander J Jordan, Cleo-Aron Weis, Isaac J Nijman, Glen R Monroe, Peter M van Hasselt, Ernest Cutz, Judith Klumperman, Hans Clevers, Edward E S Nieuwenhuis, Roderick H J Houwen, Gijs van HaaftenMichael W Hess, Lukas A Huber, Janneke M Stapelbroek, Thomas Müller, Sabine Middendorp

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgaveArtikelWetenschappelijkpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)65-68.e10
TijdschriftGastroenterology
Volume147
Nummer van het tijdschrift1
DOI's
StatusGepubliceerd - jul 2014

Vingerafdruk

Duik in de onderzoeksthema's van 'Loss of syntaxin 3 causes variant microvillus inclusion disease'. Samen vormen ze een unieke vingerafdruk.

Citeer dit