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Myosin 5B, Syntaxin 3 and Munc18-2 as central pillars for developing congenital microvillus atrophy

Uijl, M. den (2016) Myosin 5B, Syntaxin 3 and Munc18-2 as central pillars for developing congenital microvillus atrophy. Bachelor's Thesis, Biology.

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Congenital microvillus atrophy (CMA) is a collection of disorders including microvillus inclusion disease (MVID), atypical MVID, and some forms of familial hemophagocytic lymphohistiocytosis type 5 (FHL5). CMA results in malabsorption of nutrients and water, triggering life-threatening conditions, and has the following characteristics found in enterocytes: microvillus atrophy, large granules, and in most cases microvillus inclusions. In humans, mutations in the genes coding for syntaxin 3 (Stx3), syntaxin binding protein 2 (Munc18-2), or myosin 5b (Myo5B) can result in the development of CMA. By finding functional and interactive links between these three proteins, we were able to develop an interactional model describing the connection between these proteins. Simplified, Stx3 forms a complex with Munc18-2, while Myo5B is responsible for the transportation of Stx3 to the apical membrane and facilitates the interaction between Stx3 and Rab8a/11a. In an attempt to explain why only some of the patients that develop FHL5 also develop CMA, we collected all known c.DNA changes known to cause FHL5. The c.DNA changes found in patients with diarrhea, a common symptom of CMA, were compared with the c.DNA changes found in patients without diarrhea. Unfortunately, most reported c.DNA changes only appear in one, two, or three patients, making determining if it causes CMA impossible. Furthermore, the situation that diarrhea sometimes also appears in FHL5 patients with incomplete genetic/medical documentation, further complicates the determining of CMA causation. Setting up a database that includes all newly discovered FHL5 patients, and promoting accurate reporting of patients and c.DNA changes, could help to reduce the effects caused by these problems, thereby giving insight into which mutations are responsible for developing CMA.

Item Type: Thesis (Bachelor's Thesis)
Degree programme: Biology
Thesis type: Bachelor's Thesis
Language: English
Date Deposited: 15 Feb 2018 08:14
Last Modified: 15 Feb 2018 08:14

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