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lipoprotein lipase deficiency

Hong Wang, Yongping Wang, Matthew D Taussig, Robert H Eckel
OBJECTIVE: Compared to men, postmenopausal women suffer from a disproportionate burden of many co-morbidities associated with obesity, e.g. cardiovascular disease, cancer, and dementia. The underlying mechanism for this sex difference is not well understood but is believed to relate to absence of the protective effect of estrogen through the action of estrogen receptor alpha (ERα) in the central nervous system. With the recently developed neuron-specific lipoprotein lipase deficient mice (NEXLPL-/-) (Wang et al...
October 2016: Molecular Metabolism
Mariko Tani, Katalin V Horvath, Benoit Lamarche, Patrick Couture, John R Burnett, Ernst J Schaefer, Bela F Asztalos
BACKGROUND AND AIMS: Our aim was to gain insight into the role that lipoprotein lipase (LPL) and hepatic lipase (HL) plays in HDL metabolism and to better understand LPL- and HL-deficiency states. METHODS: We examined the apolipoprotein (apo) A-I-, A-II-, A-IV-, C-I-, C-III-, and E-containing HDL subpopulation profiles, assessed by native 2-dimensional gel-electrophoresis and immunoblotting, in 6 homozygous and 11 heterozygous LPL-deficient, 6 homozygous and 4 heterozygous HL-deficient, and 50 control subjects...
October 2016: Atherosclerosis
Daniel M Kelly, Samia Akhtar, Donna J Sellers, Vakkat Muraleedharan, Kevin S Channer, T Hugh Jones
Testosterone deficiency is commonly associated with obesity, metabolic syndrome, type 2 diabetes and their clinical consequences-hepatic steatosis and atherosclerosis. The testicular feminised mouse (non-functional androgen receptor and low testosterone) develops fatty liver and aortic lipid streaks on a high-fat diet, whereas androgen-replete XY littermate controls do not. Testosterone treatment ameliorates these effects, although the underlying mechanisms remain unknown. We compared the influence of testosterone on the expression of regulatory targets of glucose, cholesterol and lipid metabolism in muscle, liver, abdominal subcutaneous and visceral adipose tissue...
August 4, 2016: Endocrine
Yu-Shan Tseng, Kim Van Vliet, Lavanya Rao, Robert McKenna, Barry J Byrne, Aravind Asokan, Mavis Agbandje-McKenna
Adeno-associated viruses (AAVs) are promising viral vectors for therapeutic gene delivery, and the approval of an AAV1 vector for the treatment of lipoprotein lipase deficiency has heralded a new and exciting era for this system. However, preclinical and clinical studies show that neutralization from pre-existing antibodies is detrimental for medical application and this hurdle must be overcome before full clinical realization can be achieved. Thus the binding sites for capsid antibodies must be identified and eliminated through capsid engineering...
October 2016: Journal of Virological Methods
Jong-Gil Park, Xu Xu, Sungyun Cho, Ann-Hwee Lee
OBJECTIVE: Liver-enriched transcription factor cAMP-responsive element-binding protein H (CREBH) regulates plasma triglyceride clearance by inducing lipoprotein lipase cofactors, such as apolipoprotein A-IV (apoA-IV), apoA-V, and apoC-II. CREBH also regulates apoA-I transcription. This study aims to determine whether CREBH has a role in lipoprotein metabolism and development of atherosclerosis. APPROACH AND RESULTS: CREBH-deficient Creb3l3(-/-) mice were bred with Ldlr(-/-) mice creating Ldlr(-/-) Creb3l3(-/-) double knockout mice...
September 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
D Gaudet, Erik S Stroes, Julie Methot, Diane Brisson, Karine Tremblay, Sophie J Bernelot Moens, Giorgio Iotti, Irene Rastelletti, Diego Ardigo, Deyanira Corzo, Christian Meyer, Marc Andersen, Philippe Ruszniewski, Mark Deakin, Marco J Bruno
Alipogene tiparvovec (Glybera®) is a gene therapy product approved in Europe under the 'exceptional circumstances' pathway as a treatment for lipoprotein lipase deficiency (LPLD), a rare genetic disease resulting in chylomicronemia and a concomitantly increased risk of acute and recurrent pancreatitis, with potentially lethal outcome. This retrospective study analyzed the frequency and severity of pancreatitis in 19 patients with LPLD up to 6-years following a single treatment with alipogene tiparvovec. An independent adjudication board of 3 pancreas experts, blinded to patient identification and to pre- or post-gene therapy period, performed a retrospective review of data extracted from the patients' medical records and categorized LPLD-related acute abdominal pain events requiring hospital visits and/or hospitalizations based on the adapted 2012 Atlanta diagnostic criteria for pancreatitis...
July 13, 2016: Human Gene Therapy
Shoudong Guo, Hua Tian, Rongrong Dong, Nana Yang, Ying Zhang, Shutong Yao, Yongjun Li, Yawei Zhou, Yanhong Si, Shucun Qin
BACKGROUND AND AIMS: Previous studies investigating the correlation between plasma sialic acid and the severity of atherosclerosis present conflicting results. In atherosclerosis patients, plasma levels of N-acetylneuraminic acid (NANA) are increased; however, the underlying mechanisms have not yet been clarified. We assume the increased NANA level may be a compensatory mechanism due to oxidative stress and/or inflammation. The aim of this study is to investigate whether supplementation of NANA could attenuate the progression of atherosclerosis...
August 2016: Atherosclerosis
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No abstract text is available yet for this article.
May 2016: Journal of Paediatrics and Child Health
Anthony Liu, Sabira Shrestha, Ralph Nanan
No abstract text is available yet for this article.
May 2016: Journal of Paediatrics and Child Health
Hong Wang, Matthew D Taussig, Nicholas V DiPatrizio, Kimberley Bruce, Daniele Piomelli, Robert H Eckel
We have previously reported that mice with neuron-specific LPL deficiency (NEXLPL-/-) become obese by 16weeks of age on chow. Moreover, these mice had reduced uptake of triglyceride (TG)-rich lipoprotein-derived fatty acids and lower levels of n-3 long chain polyunsaturated fatty acids (n-3 PUFAs) in the hypothalamus. Here, we asked whether increased dietary fat content or altered dietary composition could modulate obesity development in NEXLPL-/- mice. Male NEXLPL-/- mice and littermate controls (WT) were randomly assigned one of three synthetic diets; a high carbohydrate diet (HC, 10% fat), a high-fat diet (HF, 45% fat), or a HC diet supplemented with n-3 PUFAs (HCn-3, 10% fat, Lovaza, GSK®)...
July 2016: Metabolism: Clinical and Experimental
Dan Cao, Xinhua Song, Li Che, Xiaolei Li, Maria G Pilo, Gianpaolo Vidili, Alberto Porcu, Antonio Solinas, Antonio Cigliano, Giovanni M Pes, Silvia Ribback, Frank Dombrowski, Xin Chen, Lei Li, Diego F Calvisi
BACKGROUND & AIMS: Although it is well established that fatty acids (FA) are indispensable for the proliferation and survival of cancer cells in hepatocellular carcinoma (HCC), inhibition of Fatty Acid Synthase (FASN) cannot completely repress HCC cell growth in culture. Thus, we hypothesized that uptake of exogenous FA by cancer cells might play an important role in the development and progression of HCC. Lipoprotein lipase (LPL) is the enzyme that catalyses the hydrolysis of triglycerides into free fatty acids (FFA) and increases the cellular uptake of FA...
June 6, 2016: Liver International: Official Journal of the International Association for the Study of the Liver
Anthony S Wierzbicki, Adie Viljoen
INTRODUCTION: Anti-sense oligonucleotide (ASO) therapies are a new development in clinical pharmacology offering greater specificity compared to small molecule inhibitors and the ability to target intracellular process' not susceptible to antibody-based therapies. AREAS COVERED: This article reviews the chemical biology of ASOs and related RNA therapeutics. It then reviews the data on their use to treat hyperlipidaemia. Data on mipomersen - an ASO to apolipoprotein B-100(apoB) licensed for treatment of homozygous familial hypercholesterolaemia (FH) is presented...
September 2016: Expert Opinion on Biological Therapy
Gan Liu, Jun-Nan Xu, Dong Liu, Qingli Ding, Meng-Na Liu, Rong Chen, Mengdi Fan, Ye Zhang, Chao Zheng, Da-Jin Zou, Jianxin Lyu, Weiping J Zhang
LPL is a pivotal rate-limiting enzyme to catalyze the hydrolysis of TG in circulation, and plays a critical role in regulating lipid metabolism. However, little attention has been paid to LPL in the adult liver due to its relatively low expression. Here we show that endogenous hepatic LPL plays an important physiological role in plasma lipid homeostasis in adult mice. We generated a mouse model with the Lpl gene specifically ablated in hepatocytes with the Cre/LoxP approach, and found that specific deletion of hepatic Lpl resulted in a significant decrease in plasma LPL contents and activity...
July 2016: Journal of Lipid Research
Alicia D Powers, Bryan A Piras, Robert K Clark, Timothy D Lockey, Michael M Meagher
Adeno-associated virus (AAV) vectors are increasingly popular in gene therapy because they are unassociated with human disease, replication dependent, and less immunogenic than other viral vectors and can infect a variety of cell types. These vectors have been used in over 130 clinical trials, and one AAV product has been approved for treatment of lipoprotein lipase deficiency in Europe. To meet the demand for the increasing quantities of AAV required for clinical trials and treatment, a scalable high-capacity technology is required...
June 2016: Human Gene Therapy Methods
O Helk, R Schreiber, K Widhalm
BACKGROUND/OBJECTIVE: Subjects suffering from lipoprotein lipase (LPL) deficiency show very severe hypertriglyceridemia, often accompanied by recurrent bouts of pancreatitis. Dietary intervention is currently considered first-line treatment of this condition in paediatric age. The aim of our study was to compare the effects of dietary treatment with a low-fat diet alone and a low-fat diet enriched with omega-3-fatty acids. SUBJECTS/METHODS: The data of 11 patients with LPL deficiency who were diagnosed in our lipid clinic between October 1997 and October 2007 were summarised...
May 18, 2016: European Journal of Clinical Nutrition
Yonghong Zhang, Jing Zhou, Wenxin Zheng, Zhangzhang Lan, Zhiwei Huang, Qingnan Yang, Chengbo Liu, Rui Gao, Yongjun Zhang
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease due mainly to inherited deficiencies in the proteins or enzymes involved in the clearance of triglycerides from circulation. It usually happens in late childhood and adolescence, which can have serious consequences if misdiagnosed or untreated. In the present study, we investigated two Chinese male babies (A and B), 30d and 48d in age, respectively, who have milky plasma. Clinical, biochemical, and radiological assessments were performed, while samples from the patients were referred for molecular diagnosis, including genetic testing and subsequent analysis of related genes...
2016: Lipids in Health and Disease
Toru Suzuki, Shojiro Sawada, Yasushi Ishigaki, Sohei Tsukita, Shinjiro Kodama, Takashi Sugisawa, Junta Imai, Tetsuya Yamada, Takashi Yamaguchi, Takeyoshi Murano, Hideki Katagiri
Lipoprotein lipase (LPL) deficiency is a rare monogenic disorder that manifests as severe hypertriglyceridemia. Whether or not LPL deficiency accelerates the development of atherosclerosis remains controversial. We herein report a 66-year-old woman who was homozygous for the R243H LPL mutation. She had developed multiple arterial aneurysms and systemic atherosclerosis despite good control of other atherogenic risk factors, including diabetes. Furthermore, although intensive pharmaceutical therapies had been minimally effective, medium chain triglyceride (MCT) therapy reduced the serum triglyceride levels...
2016: Internal Medicine
Maaike Kockx, Elias Glaros, Betty Leung, Theodore W Ng, Jimmy F P Berbée, Virginie Deswaerte, Diana Nawara, Carmel Quinn, Kerry-Anne Rye, Wendy Jessup, Patrick C N Rensen, Peter J Meikle, Leonard Kritharides
OBJECTIVE: Cyclosporin A (CsA) is an immunosuppressant commonly used to prevent organ rejection but is associated with hyperlipidemia and an increased risk of cardiovascular disease. Although studies suggest that CsA-induced hyperlipidemia is mediated by inhibition of low-density lipoprotein receptor (LDLr)-mediated lipoprotein clearance, the data supporting this are inconclusive. We therefore sought to investigate the role of the LDLr in CsA-induced hyperlipidemia by using Ldlr-knockout mice (Ldlr(-/-))...
July 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
Takashi Yokota, Koichi Nomura, Mikio Nagashima, Naomi Kamimura
Fucoidan, a sulfated polysaccharide extracted from brown seaweeds, possesses many biological activities including anti-inflammatory and antioxidant activities. We aimed to investigate the protective effects of fucoidan on dyslipidemia and atherosclerosis in apolipoprotein E-deficient mice (ApoE(shl) mice) and to elucidate its molecular targets in the liver by using a transcriptomic approach. For 12weeks, ApoE(shl) mice were fed a high-fat diet (HFD) supplemented with either 1% or 5% fucoidan. Fucoidan supplementation significantly reduced tissue weight (liver and white adipose tissue), blood lipid, total cholesterol (TC), triglyceride (TG), non-high-density lipoprotein cholesterol (non-HDL-C) and glucose levels in HFD-fed ApoE(shl) mice but increased plasma lipoprotein lipase (LPL) activity and HDL-C levels...
June 2016: Journal of Nutritional Biochemistry
Rute Rodrigues, Marta Artieda, Diego Tejedor, Antonio Martínez, Pavlina Konstantinova, Harald Petry, Christian Meyer, Deyanira Corzo, Claus Sundgreen, Hans U Klor, Ioanna Gouni-Berthold, Sabine Westphal, Elisabeth Steinhagen-Thiessen, Ulrich Julius, Karl Winkler, Erik Stroes, Anja Vogt, Phillip Hardt, Heinrich Prophet, Britta Otte, Borge G Nordestgaard, Samir S Deeb, John D Brunzell
BACKGROUND: Lipoprotein lipase (LPL) deficiency is a serious lipid disorder of severe hypertriglyceridemia (SHTG) with chylomicronemia. A large number of variants in the LPL gene have been reported but their influence on LPL activity and SHTG has not been completely analyzed. Gaining insight into the deleterious effect of the mutations is clinically essential. METHODS: We used gene sequencing followed by in-vivo/in-vitro and in-silico tools for classification. We classified 125 rare LPL mutations in 33 subjects thought to have LPL deficiency and in 314 subjects selected for very SHTG...
March 2016: Journal of Clinical Lipidology
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