MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome

MR Golachowska, CML Van Dael… - Journal of pediatric …, 2012 - journals.lww.com
MR Golachowska, CML Van Dael, H Keuning, A Karrenbeld, D Hoekstra, CFM Gijsbers…
Journal of pediatric gastroenterology and nutrition, 2012journals.lww.com
Methods: Biopsies from kidney, duodenum, ileum, jejunum, and colon of 2 patients with
MVID carrying MYO5B mutations and of age-matched controls were fixed in paraffin and
analyzed with immunohistochemistry and transmission electron microscopy. Results:
Structural defects of the brush border and apical recycling endosome organization are
observed in enterocytes of all of the segments of the small intestine and colon. MYO5B
mutations in patients with MVID with renal Fanconi syndrome do not correlate with aberrant …
Methods:
Biopsies from kidney, duodenum, ileum, jejunum, and colon of 2 patients with MVID carrying MYO5B mutations and of age-matched controls were fixed in paraffin and analyzed with immunohistochemistry and transmission electron microscopy.
Results:
Structural defects of the brush border and apical recycling endosome organization are observed in enterocytes of all of the segments of the small intestine and colon. MYO5B mutations in patients with MVID with renal Fanconi syndrome do not correlate with aberrant apical plasma membrane morphology or altered apical recycling endosome organization in renal tubular epithelial cells.
Conclusions:
MYO5B mutations have divergent effects on the apical membrane system in kidney and intestinal epithelial cells. Epithelial defects presented in MVID are therefore likely triggered by intestine-specific factors, the identification of which may provide new targets and open avenues for the development of alternative therapeutic strategies to combat this devastating disease.
Lippincott Williams & Wilkins