Microvillus inclusion disease. Lessons about the apical plasma membrane

Promotie: mw. M.R. Golachowska, 16.15 uur, Doopsgezinde kerk, Oude Boteringestraat 33, Groningen

Proefschrift: Microvillus inclusion disease. Lessons about the apical plasma membrane

Promotor(s): prof.dr. D. Hoekstra

Faculteit: Medische Wetenschappen

Microvillus Inclusion Disease (MVID) is a rare hereditary malabsorption disorder that presents with severe diarrhea shortly after birth. The focus of this thesis was to study the genetic cause and pathophysiology of MVID. Several unique mutations in the MYO5B gene were identified. MYO5B encodes the myosin Vb protein, which is involved in intracellular vesicular transport, the apical endosomal recycling in particular. Mutations in the MYO5B may lead to a reduced amount of the protein in the MVID enterocytes, which affects the intracellular organization of the endosomes, leading to the pathologic phenotype.