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  • Title: Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.
    Author: Katsuda S, Kawashiri MA, Inazu A, Tada H, Tsuchida M, Kaneko Y, Nozue T, Nohara A, Okada T, Kobayashi J, Michishita I, Mabuchi H, Yamagishi M.
    Journal: Clin Chim Acta; 2009 Jan; 399(1-2):64-8. PubMed ID: 18848826.
    Abstract:
    BACKGROUND: Familial hypobetalipoproteinemia (FHBL) is a hereditary disorder characterized by decreased plasma concentrations of low-density lipoprotein cholesterol. The best-characterized causes of FHBL are apolipoprotein B (apoB) gene mutations, which produce truncated apoB proteins. Fatty liver is thought to be frequent in FHBL, owing to impaired secretion of very-low-density lipoprotein from the liver. Homozygotes for FHBL present with extremely low concentrations of plasma lipids, and may suffer from deficiencies of fat-soluble vitamins. The objectives of this study were to identify apoB-defective FHBL subjects and investigate fatty liver in Japanese population. METHODS: We screened 14 hypocholesterolemic subjects for apoB gene mutations by PCR-SSCP and performed liver ultrasonography in a Japanese population. RESULTS: We identified an apoB-82 homozygote in one subject and an apoB-13.7 heterozygote in another subject. Four of 6 individuals with FHBL presented with fatty liver in those 2 FHBL families. Liver biopsy of the apoB-13.7 heterozygote, which had obesity and insulin resistance, showed severe fatty liver. The apoB-82 homozygote was asymptomatic with fat-soluble vitamin concentrations being normal, possibly due to spared secretion of apoB-48 from the intestine and increased plasma concentrations of high-density lipoprotein cholesterol. CONCLUSION: ApoB gene mutations might not be rare and that fatty liver might be frequent in Japanese FHBL.
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