MYO5B Mutations in Patients With Microvillus Inclusion Disease Presenting With Transient Renal Fanconi Syndrome

Autor: Carin M. L. van Dael, Arend Karrenbeld, Magdalena R. Golachowska, Edmond H. H. M. Rings, Dick Hoekstra, Marc A. Benninga, Sven C.D. van IJzendoorn, Carolien F. M. Gijsbers, Hilda M. Keuning
Přispěvatelé: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Gastroenterology, Molecular Neuroscience and Ageing Research (MOLAR), Nanotechnology and Biophysics in Medicine (NANOBIOMED), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Center for Liver, Digestive and Metabolic Diseases (CLDM), Kindergeneeskunde, RS: GROW - School for Oncology and Reproduction
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Male
Pathology
Biopsy
CHILDREN
Disease
Kidney
TERM PARENTERAL-NUTRITION
Mucolipidoses
Intestine
Small
FAILURE
Enteropathy
RECYCLING ENDOSOMES
Epithelial polarity
Inclusion Bodies
Microvilli
MYOSIN VB
Gastroenterology
renal Fanconi syndromecc
cell polarity
medicine.anatomical_structure
INFANCY
EPITHELIAL-CELL POLARITY
apical plasma membrane
medicine.medical_specialty
Brush border
Duodenum
Myosin Type V
Endosomes
apical recycling endosome
digestive system
ATROPHY
Atrophy
Malabsorption Syndromes
Microscopy
Electron
Transmission
brush border
Ileum
medicine
PROTRACTED DIARRHEA
recycling endosome
Humans
RAB11A
Myosin Heavy Chains
business.industry
Infant
Newborn
Infant
Epithelial Cells
Fanconi Syndrome
medicine.disease
Microvillus
Apical recycling endosome
Mutation
Pediatrics
Perinatology and Child Health
Immunology
business
microvillus inclusion disease
Zdroj: Journal of pediatric gastroenterology and nutrition, 54(4), 491-498. Lippincott Williams and Wilkins
Journal of Pediatric Gastroenterology and Nutrition, 54(4), 491-498. Lippincott Williams and Wilkins
Journal of Pediatric Gastroenterology and Nutrition, 54(4), 491-498. LIPPINCOTT WILLIAMS & WILKINS
ISSN: 0277-2116
Popis: Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy and reduced expression of enzymes at the enterocytes' apical surface. MVID is associated with mutations in the MYO5B gene, which is expressed in all epithelial tissues. Whether organs other than the intestine are affected in MVID is unclear. We report 2 patients with MVID that developed renal Fanconi syndrome while receiving total parenteral nutrition. Renal Fanconi syndrome has been correlated to apical plasma membrane defects in kidney proximal tubular epithelial cells. The aim of the present study was to determine whether MYO5B mutations in these patients correlate with similar apical plasma membrane defects in renal tubular epithelial cells as observed in the intestine.: 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.: 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.: 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.
Databáze: OpenAIRE
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