We studied serum lipids and post-heparin triglyceride lipase activities in 8 patients with Beta-Thalassaemia Major, under high transfusion programme and regular chelation therapy and in 8 control subjects. Total cholesterol and HDL-cholesterol were significantly lower in patients with Cooley's anaemia, whereas triglyceride levels did not differ in the two groups. Post-heparin triglyceride lipase activities were determined according with the method of Krauss et A1. using glyceryl-tri-(1-14C)oleate as substrate and NaCl to inactivate the extrahepatic lipase. These enzymatic activities (both hepatic and extrahepatic) resulted significantly lower in thalassaemic patients. We suppose that the decreased levels of these enzymatic activities could play a role in determining the decrease of HDL-cholesterol that we observed in our thalassaemic patients.
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J Clin Lipidol
December 2024
Western University, London, ON, Canada.
Background: Familial chylomicronemia syndrome (FCS) is diagnosed by genetic or non-genetic criteria.
Objective: To assess responses to treatment of apolipoprotein (apo)C-III, triglycerides, and pancreatitis events in patients with FCS-based diagnostic methods.
Methods: APPROACH enrolled 66 patients with FCS randomized to volanesorsen or placebo for 12 months.
Animal Model Exp Med
December 2024
Institute of Cardiovascular Sciences, Peking University Health Science Center, Beijing, China.
Hypertriglyceridemia (HTG) often accompanies diabetes and is considered a risk factor for diabetic vascular complications. However, inducing diabetic HTG typically requires high-fat diets in certain animal models. Leveraging our newly developed LDL receptor knockout hamster model, which exhibits features akin to human lipid metabolism, we sought to determine whether these animals would develop HTG without dietary manipulations in diabetes.
View Article and Find Full Text PDFJ Lipid Res
April 2024
Department of Clinical Laboratory Medicine, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan; Clinical Laboratory Center, Gunma University Hospital, Maebashi, Gunma, Japan.
To support in vivo and in vitro studies of intravascular triglyceride metabolism in mice, we created rat monoclonal antibodies (mAbs) against mouse LPL. Two mAbs, mAbs 23A1 and 31A5, were used to develop a sandwich ELISA for mouse LPL. The detection of mouse LPL by the ELISA was linear in concentrations ranging from 0.
View Article and Find Full Text PDFLipids Health Dis
April 2024
Department of Critical Care Medicine, Nanjing Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Background: Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. However, rare biallelic LPL variants resulting in significant but partial loss of function are rarely documented.
View Article and Find Full Text PDFEndocr J
May 2024
Department of Internal Medicine, Teikyo University School of Medicine, Tokyo 173-8605, Japan.
Severe hypertriglyceridemia is a pathological condition caused by genetic factors alone or in combination with environmental factors, sometimes leading to acute pancreatitis (AP). In this study, exome sequencing and biochemical analyses were performed in 4 patients with hypertriglyceridemia complicated by obesity or diabetes with a history of AP or decreased post-heparin LPL mass. In a patient with a history of AP, SNP rs199953320 resulting in LMF1 nonsense mutation and APOE rs7412 causing apolipoprotein E2 were both found in heterozygous form.
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