Intestinal epithelial cell polarity defects in disease: lessons from microvillus inclusion disease
نویسندگان
چکیده
منابع مشابه
Identification of intestinal ion transport defects in microvillus inclusion disease.
Loss of function mutations in the actin motor myosin Vb (Myo5b) lead to microvillus inclusion disease (MVID) and death in newborns and children. MVID results in secretory diarrhea, brush border (BB) defects, villus atrophy, and microvillus inclusions (MVIs) in enterocytes. How loss of Myo5b results in increased stool loss of chloride (Cl(-)) and sodium (Na(+)) is unknown. The present study used...
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Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5...
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We report two cases of microvillus inclusion disease and these are the first cases in Korea. The two babies (one baby had a sibling who died of diarrhea in the neonatal period) had excreted their stools up to 200 ml/kg per day since several days after birth. Workup's included extensive infectious, immunologic, hormonal and rheumatologic studies, all of which were negative or normal. Diagnosis r...
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Microvillus inclusion disease (MVID) is a rare autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea. We report a case of MVID variant with a homozygous gene mutation in syntaxin 3 (STX3). The patient is a male Saudi infant who presented shortly after birth with severe vomiting, metabolic acidosis, and mild diarrhea. Electron microscopy study for small intes...
متن کاملMyo5b knockout mice as a model of microvillus inclusion disease
Inherited MYO5B mutations have recently been associated with microvillus inclusion disease (MVID), an autosomal recessive syndrome characterized by intractable, life-threatening, watery diarrhea appearing shortly after birth. Characterization of the molecular mechanisms underlying this disease and development of novel therapeutic approaches is hampered by the lack of animal models. In this stud...
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ژورنال
عنوان ژورنال: Disease Models & Mechanisms
سال: 2018
ISSN: 1754-8411,1754-8403
DOI: 10.1242/dmm.031088