Skip to ContentSkip to Navigation
About usNews and EventsNews articles

Microvillus inclusion disease. Lessons about the apical plasma membrane

11 July 2011

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.

 

Last modified:15 September 2017 3.40 p.m.

More news

  • 16 April 2019

    A thorough characterization of structural variants in human genomes

    Human genomes vary quite a bit from individual to individual. These differences include single nucleotide changes, or “spelling mistakes” in the DNA sequence, but even more variation comes from structural variants, which include additions, deletions...

  • 02 April 2019

    ‘Sense of loss drives voting behaviour’

    ‘Everybody here loves that academia has returned to Friesland. We teach, carry out research and think along about solutions to problems that are relevant for Friesland,’ says Caspar van den Berg, Professor of Global and Local Governance at the UG Campus...

  • 02 April 2019

    UMCG onderzoekt behandeling tegen geheugenachteruitgang ouderen

    Is het mogelijk om achteruitgang van geheugen en denkvermogen bij ouderen te remmen door hun hersenen letterlijk actiever te maken? Kan stimulatie met zwakke stroompjes op de schedel de veerkracht van hersenen versterken? Hersenonderzoekers van het...