Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48.

Averna, Maurizio; Seip, Richard L.; Mankowitz, Keith; Schonfeld, Gustav

doi:10.1016/s0022-2275(20)35113-0

Cited by 19 publications

(1 citation statement)

References 33 publications

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“…might have lipid malabsorption possibly due to a reduced availability of apoB-48 (haplo-insufficiency) for the formation of chylomicrons. This explanation seems in contrast with the results obtained by Averna et al (35), who compared fat absorption in heterozygotes with apoB truncations longer than apoB-48 or shorter than apoB-48 and found no effect of the apoB length on postprandial lipemia. However, in that study, heterozygotes for truncations shorter than apoB-48 were carriers of apoBs with a size ranging from apoB-31 to apoB-46.…”

Section: Discussioncontrasting

confidence: 88%

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

Tarugi

Lonardo

Gabelli

et al. 2001

Journal of Lipid Research

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We report the clinical phenotype in three kindreds with familial heterozygous hypobetalipoproteinemia (FHBL) carrying novel truncated apolipoprotein Bs (apoBs) of different sizes (apoB-8.15, apoB-33.4 and apoB-75.7). In D.A. kindred, we found three carriers of a C-deletion in exon 10 leading to the synthesis of apoB-8.15 not detectable in plasma. They showed steatorrhea and fatty liver. In N.L. kindred, the proband is heterozygous for a nonsense mutation in exon 26, leading to the formation of apoB-33.4. He had premature cerebrovascular disease and fatty liver; two apoB-33.4 carriers in this kindred showed only fatty liver. In B.E. kindred, the proband is heterozygous for a T-deletion in exon 26, which converts tyrosine at codon 3435 into a stop codon, resulting in apoB-75.7. The proband, a heavy alcohol drinker, had steatohepatitis, whereas his teetotaller daughter, an apoB-75.7 carrier, had no detectable fatty liver. This study suggests that: i ) fatty liver invariably develops in FHBL carriers of short and medium-size truncated apoBs ( Ͻ apoB-48), but its occurrence needs additional environmental factors in carriers of longer apoB forms; ii ) intestinal lipid malabsorption develops only in carriers of short truncated apoBs, which are not secreted into the plasma; and iii ) cerebrovascular disease due to premature atherosclerosis may occur even in FHBL subjects. -Tarugi, P.

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Section: Discussioncontrasting

confidence: 88%

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

Tarugi

Lonardo

Gabelli

et al. 2001

Journal of Lipid Research

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Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

et al. 2015

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Background: Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are rare inherited forms of hypolipidemia. Their differential diagnosis is important for predicting of the prognosis and selecting appropriate therapy.Materials and Methods: Genetic analysis was performed in two patients with primary hypocholesterolemia born from consanguineous parents. The oral fat tolerance test (OFTT) was performed in one patient with FHBL (apoB-87.77) and one with ABL as well as in four normal control subjects. After overnight fasting, blood samples were drawn. Serum lipoprotein and remnant-like particle (RLP) fractions were determined by HPLC analysis.Results: Both patients with homozygous FHBL were asymptomatic probably because of preserved levels of fatsoluble vitamins, especially vitamin E. The patients with FHBL were homozygous because of novel apoB-83.52 and apoB-87.77 mutations, and although one of them (apoB-87.77) had fatty liver disease, microscopic findings suggesting nonalcoholic steatohepatitis were absent. Fasting apoB-48 and RLP-triglyceride levels in the patient with homozygous FHBL, which were similar to those in normal control subjects, increased after OFTT both in normal control subjects and the patient with FHBL but not in the patient with ABL, suggesting that the fat load administered was absorbed only in the patient with FHBL.Conclusion: Although lipid levels in the patients with homozygous FHBL and ABL were comparable, fasting, postoral fat loading of apoB-48, as well as RLP-triglyceride

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Störungen des Lipid- und Lipoproteinstoffwechsels

Julius¹,

Pietzsch²,

Hanefeld³

2000

Monogen Bedingte Erbkrankheiten 1

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Postprandial lipemia in subjects with hypobetalipoproteinemia and a single intestinal allele for apoB-48.

Cited by 19 publications

References 33 publications

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia

Störungen des Lipid- und Lipoproteinstoffwechsels

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