Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

• DOI: 10.1186/1750-1172-6-1
• Publication Date: 2011-01-19T11:11:26Z
• Authors: Amandine Georges; Jessica Bonneau; Dominique Bonnefo...; Jacqueline Champi...; Jean P Rabès; Marianne Abifadel; Thomas Aparicio; Jean C Guenedet; Eric Bruckert; Catherine Boileau; Alain Morali; Mathilde Varret; Lawrence P Aggerbeck; Marie E Samson-Bouma
• Keywords: PCSK9

Abstract Background Anderson's disease (AD) or chylomicron retention (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and evaluate expression, as compared healthy subjects, of Sar1 protein paralogues intestine, we investigated three previously undescribed individuals with disease. Methods The SAR1B, SAR1A PCSK9 genes were sequenced. expression intestinal biopsies both normal patients was measured by RTqPCR. Immunohistochemistry using antibodies recombinant used localization duodenal biopsies. Results Two had mutation (p.Asp48ThrfsX17). third patient, who described (p.Leu28ArgfsX7), also p.Leu21dup variant gene. from an AD/CMRD patient significantly decreased whereas increased, individuals. proteins present amounts enterocytes those subjects. Conclusions Although encoded are 90% identical, increased does not appear compensate for lack protein. variant, although reported be associated low levels cholesterol, exert any additional effect this patient. results provide further insight into tissue-specific nature AD/CMRD.