Combination of Circulating Antilipoprotein Lipase (Anti-LPL) Antibody and Heterozygous S172 fsX179 Mutation of LPL Gene Leading to Chronic Hyperchylomicronemia
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چکیده
منابع مشابه
Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
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We investigated, in the present study, the role of reactive oxygen intermediates (ROI) in the control of macrophage lipoprotein lipase (LPL) secretion. Exposure of murine macrophages to increasing concentrations of hydrogen peroxide (H2O2) resulted in enhanced basal LPL production and mRNA levels. The increase of LPL production was reduced in the presence of antioxidants. Oxidant stress also mo...
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Evidence of a gene-exercise interaction for traits related to body composition is limited. Here, the association between the lipoprotein lipase (LPL) S447X polymorphism and changes in body mass index, fat mass, percent body fat, abdominal visceral fat measured by computed tomography, and post-heparin plasma LPL activity in response to 20 wk of endurance training was investigated in 741 adult wh...
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Familial combined hyperlipidemia (FCHL) is an oligogenic disorder, with family members having elevated apolipoprotein B-100 levels and either elevated plasma cholesterol or triglyceride levels or both. Obligate heterozygous parents of children with lipoprotein lipase (LPL) deficiency express a mild FCHL phenotype. Of patients with FCHL, 36% have diminished postheparin LPL activity and mass valu...
متن کاملLIPOPROTEIN LIPASE: FROM GENE TO OBESITY Running Title: LPL and Obesity
LPL, lipoprotein lipase; TG, triglyceride; VLDL, very low density lipoproteins; HL, hepatic lipase; PL, pancreatic lipase; EL, endothelial lipase; HSPG, heparin sulfate proteoglycans; cld, combined lipase deficiency; fld, fatty liver dystrophy; LMF, lipase maturation factor; ANGPTL, angiopoietin-like; RAP, receptor-associated protein; APOA5, apolipoprotein A5; CHO, carbohydrate. Articles in Pre...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2005
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2005-0205