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Published on: April 26, 2019
Rab11 is a useful tool for the diagnosis of microvillous inclusion disease
Geoffrey Talmon1, Melissa Holzapfel, Dominick J DiMaio
1Department of Pathology and Microbiology, University of Nebraska Medical Center, 983135 Nebraska Medical Center, Omaha, NE 68198-3135, USA. gtalmon@unmc.edu
Abstract:
Microvillous inclusion disease (MVID) is a congenital condition presenting with intractable diarrhea. Biopsies demonstrate abnormal apical PAS and CD10 staining in surface enterocytes correlating with the presence of characteristic cytoplasmic inclusions. MVID has been linked to mutations in myosin Vb, important in apical membrane recycling. Rab11 associates with myosin Vb in vesicle membranes and is also integral in recycling plasma membrane components. The authors performed Rab11 immunostaining on biopsies from 7 MVID cases, 10 normal small intestines, and 10 with chronic enteritis. In MVID cases, Rab11 showed diffuse apical cytoplasmic staining of surface enterocytes in a pattern similar to PAS and CD10, which was absent in all the 20 control cases. Ultrastructural examination confirmed localization to the external surface of MVID cytoplasmic inclusions. Rab11 staining may be a useful adjunct in MVID diagnosis and the results support that myosin Vb dysfunction is important in the pathogenesis of MVID.
Insights
Rab11 immunostaining can aid in diagnosing microvillous inclusion disease (MVID), a congenital diarrhea condition. This diagnostic marker targets cytoplasmic inclusions linked to myosin Vb dysfunction in MVID pathogenesis.
Area of Science:
- Gastroenterology
- Cell Biology
- Pathology
Background:
- Microvillous inclusion disease (MVID) is a congenital disorder causing severe diarrhea.
- Pathological hallmarks include abnormal apical staining (PAS, CD10) and cytoplasmic inclusions in enterocytes.
- MVID is associated with mutations in myosin Vb, crucial for apical membrane recycling.
Purpose of the Study:
- To investigate the utility of Rab11 immunostaining in diagnosing MVID.
- To explore the role of Rab11 in the pathogenesis of MVID.
Main Methods:
- Rab11 immunostaining was performed on small intestine biopsies from 7 MVID patients and 20 controls (10 normal, 10 chronic enteritis).
- Immunostaining patterns were compared with PAS and CD10 staining.
- Ultrastructural examination was used to confirm Rab11 localization.
Main Results:
- MVID cases exhibited diffuse apical cytoplasmic Rab11 staining in surface enterocytes, mirroring PAS and CD10 patterns.
- This staining pattern was absent in all control cases.
- Ultrastructural analysis localized Rab11 to the external surface of MVID cytoplasmic inclusions.
Conclusions:
- Rab11 immunostaining serves as a valuable diagnostic adjunct for MVID.
- The findings support the critical role of myosin Vb dysfunction in MVID pathogenesis.
- Rab11's localization highlights its involvement in the cellular defects underlying MVID.
