Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B

Roy, Claude; Lévy, Émile; Green, Peter H.R.; Sniderman, Allan D.; Letarte, Jacques; Buts, Jean-Paul; Orquin, Jacqueline; Brochu, Pierre; Weber, Andrée; Morin, Claude; Marcel, Yves L.; Deckelbaum, Richard J.

doi:10.1016/0016-5085(87)90133-8

Cited by 121 publications

(83 citation statements)

References 24 publications

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“…Intestinal ultrastructural studies have shown that villi are present in normal number and length but that the enterocytes are overloaded with fat droplets. In contrast to abetalipoproteinemia, the presence of chylomicron and VLDL-sized particles has been noted in membrane-bound compartments in the enterocytes of some patients, 7,8,14,18,20,21 suggesting that lipoprotein assembly may take place. Roy and colleagues 14 proposed the name chylomicron retention disease for the disorder in their patients.…”

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“…In contrast to abetalipoproteinemia, the presence of chylomicron and VLDL-sized particles has been noted in membrane-bound compartments in the enterocytes of some patients, 7,8,14,18,20,21 suggesting that lipoprotein assembly may take place. Roy and colleagues 14 proposed the name chylomicron retention disease for the disorder in their patients. The molecular basis of Anderson's disease (chylomicron retention disease) has not been established.…”

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“…3 Anderson's disease and chylomicron retention disease are the terms used to describe subjects having hypobetalipoproteinemia with selective absence of apo B48. 1 Thirty-five cases 4 -21 have been reported, including the following 2 series: one from France consisting of 10 cases 12 under the name of Anderson's disease and one from Canada consisting of 8 cases 14,15 under the name of chylomicron retention disease. Subjects with these disorders exhibit the clinical manifesta-tions initially described by Anderson and colleagues 4 that consist of a malabsorption syndrome with steatorrhea and growth retardation.…”

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confidence: 99%

“…Immunoenzymatic 12,14 and organ culture studies 15 have shown the presence of apo B48 in enterocytes, which suggests that mutations in the apo B gene are not the cause of the disease. Further, genetic linkage studies have excluded the apo B gene in 8 cases of Anderson's disease in 3 families [17][18] and in 2 cases (1 family) of chylomicron retention disease.…”

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Anderson’s Disease

Dannoura¹,

Berriot-Varoqueaux²,

Amati³

et al. 1999

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Abstract-Anderson's disease is a rare, hereditary hypocholesterolemic syndrome characterized by chronic diarrhea, steatorrhea, and failure to thrive associated with the absence of apo B48 -containing lipoproteins. To further define the molecular basis of the disease, we studied 8 affected subjects in 7 unrelated families of North African origin after treatment with a low-fat diet. Lipid loading of intestinal biopsies persisted, but the pattern and extent of loading was variable among the patients. Electron microscopy showed lipoprotein-like particles in membrane-bound compartments, the densities (0.65 to 7.5 particles/ 2 ) and the mean diameters (169 to 580 nm) of which were, in general, significantly larger than in a normal fed subject (0.66 particles/ 2 , 209 nm mean diameter). There were also large lipid particles having diameters up to 7043 nm (average diameters from 368 to 2127 nm) that were not surrounded by a membrane. Rarely, lipoprotein-like particles 50 to 150 nm in diameter were observed in the intercellular spaces. Intestinal organ culture showed that apo B and apo AIV were synthesized with apparently normal molecular weights and that small amounts were secreted in lipid-bound forms (density Ͻ1.006 g/mL). Normal microsomal triglyceride transfer protein (MTP) and activity were also detected in intestinal biopsies. Segregation analyses of 4 families excluded, as a cause of the disease, significant regions of the genome surrounding the genes for apo AI, AIV, B, CI, CII, CIII, and E, as were the genes encoding 3 proteins involved in intracellular lipid transport, MTP, and fatty acid binding proteins 1 and 2. The results suggest that a factor other than apoproteins and MTP are important for human intestinal chylomicron assembly and secretion.

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Anderson’s Disease

Dannoura¹,

Berriot-Varoqueaux²,

Amati³

et al. 1999

ATVB

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“…Ces derniers vont être exocytés de la partie basale de la cellule épithéliale dans l'espace intercellulaire, acheminés vers la lame basale puis vers le tissu conjonctif sous-épithélial où ils gagnent le chylifère central de la villosité intestinale. Conformément à nos études, des aberrations génétiques (délétions ou mutations) dans l'apo B, le MTP et le Sar1b GTPase [33][34][35][36][37] vont entraîner des défauts d'enrobage et d'assemblage, ainsi que du trafic inter-organites, résultant en l'hypobétalipoprotéinémie, l'abétalipoprotéinémie et la rétention des CM. La malabsorption des lipides peut également se produire par une détérioration de la captation due à la diminution de la surface d'absorption et à une dysfonction de la muqueuse (comme c'est le cas dans la maladie coeliaque et la maladie de Whipple), les troubles du système lymphatique (comme dans la lymphangiectasie intestinale, la fibrose rétropéritonéale ou le lymphome) et la diminution de la surface intestinale (comme dans le syndrome de l'intestin court).…”

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