LRBA, a BEACH protein mutated in human immune deficiency, is widely expressed in epithelia, exocrine and endocrine glands, and neurons
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View abstract on PubMed
Summary
This summary is machine-generated.Lipopolysaccharide-binding protein (LBP) is expressed in many tissues, not just immune cells. LBP deficiency may contribute to disease pathogenesis in affected tissues beyond immune dysregulation.
Area Of Science
- Immunology
- Cell Biology
- Genetics
Background
- Mutations in Lipopolysaccharide-binding protein (LBP) cause severe human immune deficiency.
- LBP is biochemically known to be expressed in various tissues, but its precise cellular and subcellular localization, and the consequences of its deficiency outside the immune system remain largely unknown.
Purpose Of The Study
- To comprehensively survey the expression patterns of LBP across numerous tissues.
- To determine the cellular and subcellular localization of the LBP protein.
- To investigate the potential contribution of LBP deficiency to pathogenesis in non-immune tissues.
Main Methods
- LacZ histochemistry in Lrba gene-trap mice to map LBP expression.
- Immunofluorescence microscopy in exocrine and endocrine pancreas, salivary glands, and intestinal segments.
- Immuno-electron microscopy in neurons and endocrine cells co-expressing LBP and neurobeachin.
Main Results
- LBP expression was detected in a wide array of tissues, including most epithelia, exocrine and endocrine cells, and neuronal subpopulations.
- Immunofluorescence confirmed cellular expression patterns and revealed subcellular localization of LBP.
- Immuno-electron microscopy showed LBP and neurobeachin associate with endomembranes in complementary subcellular distributions in neurons and endocrine cells.
Conclusions
- LBP exhibits broad tissue expression, extending beyond immune cells.
- The widespread expression of LBP in tissues affected by human LBP deficiency suggests a potential role for LBP deficiency in the pathogenesis of these conditions, possibly exacerbating disease beyond immune dysregulation.
- LBP deficiency may enhance tissue vulnerability and contribute to the pathogenesis of conditions like inflammatory bowel disease and endocrinopathies.
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