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Lipase acid lipoprotein deficiency

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https://www.readbyqxmd.com/read/28710138/disruption-of-lipid-uptake-in-astroglia-exacerbates-diet-induced-obesity
#1
Yuanqing Gao, Clarita Layritz, Beata Legutko, Thomas O Eichmann, Elise Laperrousaz, Valentine S Moullé, Celine Cruciani-Guglielmacci, Christophe Magnan, Serge Luquet, Stephen C Woods, Robert H Eckel, Chun-Xia Yi, Cristina Garcia-Caceres, Matthias H Tschöp
Neuronal circuits in the brain help to control feeding behavior and systemic metabolism in response to afferent nutrient and hormonal signals. Although astrocytes have historically been assumed to be less relevant for such neuroendocrine control, we asked whether lipid uptake via lipoprotein lipase (LPL) in astrocytes is required for the central regulation of energy homeostasis. Ex vivo studies with hypothalamic-derived astrocytes showed that LPL expression is up-regulated by oleic acid; whereas it is decreased in response to palmitic acid or triglyceride...
July 14, 2017: Diabetes
https://www.readbyqxmd.com/read/28641384/acute-testosterone-deficiency-alters-adipose-tissue-fatty-acid-storage
#2
Sylvia Santosa, Nikki C Bush, Michael D Jensen
Context: Although the long-term effects of testosterone on adipose tissue lipid metabolism in men have been defined, the short-term regulation of these effects is not well understood. Objective: We examined the effects of acute testosterone withdrawal on subcutaneous abdominal and femoral adipose tissue fatty acid (FA) storage and cellular mechanisms. Design: This was a prospective, randomized trial. Setting: Mayo Clinic Clinical Research Unit...
June 21, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#3
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
August 2017: Der Internist
https://www.readbyqxmd.com/read/28502509/the-heterozygous-n291s-mutation-in-the-lipoprotein-lipase-gene-impairs-whole-body-insulin-sensitivity-and-affects-a-distinct-set-of-plasma-metabolites-in-humans
#4
Sofia Mikkelsen Berg, Jesper Havelund, Harald Hasler-Sheetal, Vibeke Kruse, Andreas James Thestrup Pedersen, Aleksander Bill Hansen, Mads Nybo, Henning Beck-Nielsen, Kurt Højlund, Nils Joakim Færgeman
BACKGROUND: Mutations in the lipoprotein lipase gene causing decreased lipoprotein lipase activity are associated with surrogate markers of insulin resistance and the metabolic syndrome in humans. OBJECTIVE: We investigated the hypothesis that a heterozygous lipoprotein lipase mutation (N291S) induces whole-body insulin resistance and alterations in the plasma metabolome. METHODS: In 6 carriers of a heterozygous lipoprotein lipase mutation (N291S) and 11 age-matched and weight-matched healthy controls, we examined insulin sensitivity and substrate metabolism by euglycemic-hyperinsulinemic clamps combined with indirect calorimetry...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28493444/impact-of-hyperlipidaemia-on-intermediary-metabolism-faecal-microbial-metabolites-and-urinary-characteristics-of-lipoprotein-lipase-deficient-vs-normal-cats
#5
N Paßlack, J Zentek, J A Larsen, J L Westropp, A J Fascetti
Findings in humans and rats indicate that hyperlipidaemia may be associated with enhanced endogenous oxalate (Ox) synthesis, which may be relevant for calcium oxalate (CaOx) urolith formation. Moreover, changes in lipid metabolism are proposed to negatively affect gut microbiota. This study aimed to investigate those potential interactions in hyperlipidaemic cats. Therefore, 10 normal control cats and seven lipoprotein lipase (LPL)-deficient cats were fed a low-fat diet for seven weeks. During the last week of the study, cats were housed in metabolic cages to collect urine and faeces...
May 11, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28438574/extreme-hypertriglyceridemia-pseudohyponatremia-and-pseudoacidosis-in-a-neonate-with-lipoprotein-lipase-deficiency-due-to-segmental-uniparental-disomy
#6
Ambika P Ashraf, Anna C E Hurst, Abhimanyu Garg
Extreme hypertriglyceridemia is rare in the neonatal period. We report a neonate with lipoprotein lipase (LPL) deficiency who presented with diagnostic and management conundrum. A full-term 36-day-old female was noted to have "Pepto-Bismol like" blood when repeating a newborn screening. The initial plasma triglyceride level was 24,318 mg/dL. The laboratory tests revealed serum bicarbonate level of <5 mmol/L, sodium of 127 mmol/L, and severe anemia. There were no signs of acute distress. The point of care capillary blood testing, however, demonstrated normal serum pH (7...
April 3, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28430962/ulk1-prevents-cardiac-dysfunction-in-obesity-through-autophagy-meditated-regulation-of-lipid-metabolism
#7
Minae An, Dong-Ryeol Ryu, Jang Won Park, Ji Ha Choi, Eun-Mi Park, Kyung Eun Lee, Minna Woo, Minsuk Kim
Aims: Autophagy is essential to maintain tissue homeostasis, particularly in long-lived cells such as cardiomyocytes. Whereas many studies support the importance of autophagy in the mechanisms underlying obesity-related cardiac dysfunction, the role of autophagy in cardiac lipid metabolism remains unclear. In the heart, lipotoxicity is exacerbated by cardiac lipoprotein lipase (LPL), which mediates accumulation of fatty acids to the heart through intravascular triglyceride (TG) hydrolysis...
April 17, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28404638/kidney-triglyceride-accumulation-in-the-fasted-mouse-is-dependent-upon-serum-free-fatty-acids
#8
Diego Scerbo, Ni-Huiping Son, Alaa Sirwi, Lixia Zeng, Kelli M Sas, Vincenza Cifarelli, Gabriele Schoiswohl, Lesley-Ann Huggins, Namrata Gumaste, Yunying Hu, Subramaniam Pennathur, Nada A Abumrad, Erin E Kershaw, M Mahmood Hussain, Katalin Susztak, Ira J Goldberg
Lipid accumulation is a pathological feature of every type of kidney injury. Despite this striking histological feature, physiological accumulation of lipids in the kidney is poorly understood. We studied whether the accumulation of lipids in the fasted kidney are derived from lipoproteins or NEFAs. With overnight fasting, kidneys accumulated triglyceride, but had reduced levels of ceramide and glycosphingolipid species. Fasting led to a nearly 5-fold increase in kidney uptake of plasma [(14)C]oleic acid. Increasing circulating NEFAs using a β adrenergic receptor agonist caused a 15-fold greater accumulation of lipid in the kidney, while mice with reduced NEFAs due to adipose tissue deficiency of adipose triglyceride lipase had reduced triglycerides...
June 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28391883/childhood-adult-onset-lysosomal-acid-lipase-deficiency-a-serious-metabolic-and-vascular-phenotype-beyond-liver-disease-four-new-pediatric-cases
#9
Pierre Poinsot, Sophie Collardeau Frachon, Lioara Restier, André Sérusclat, Mathilde Di Filippo, Sybil Charrière, Philippe Moulin, Alain Lachaux, Noel Peretti
BACKGROUND: The childhood/adult-onset lysosomal acid lipase deficiency (LALD; late-onset LALD) is a rare genetic disease. Children present severe fatty liver disease with early cirrhosis. Before enzyme replacement therapy, statins were the standard treatment to improve the severe dyslipidemia. However, late-onset LALD should be considered as a systemic metabolic disease: chronic hyper-low-density lipoprotein and hypo-high-density lipoprotein cholesterolemia induces early atherosclerosis in addition to the liver morbidity...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#10
COMPARATIVE STUDY
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD)...
July 1, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28284702/the-role-of-registries-in-rare-genetic-lipid-disorders-review-and-introduction-of-the-first-global-registry-in-lipoprotein-lipase-deficiency
#11
REVIEW
Elisabeth Steinhagen-Thiessen, Erik Stroes, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Michaela Dippel, Maurizio R Averna
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera(®)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan...
August 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#12
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27984852/biochemical-analysis-of-the-lipoprotein-lipase-truncation-variant-lpl-s447x-reveals-increased-lipoprotein-uptake
#13
Cassandra K Hayne, Michael J Lafferty, Brian J Eglinger, John P Kane, Saskia B Neher
Lipoprotein lipase (LPL) is responsible for the hydrolysis of triglycerides from circulating lipoproteins. Whereas most identified mutations in the LPL gene are deleterious, one mutation, LPL(S447X), causes a gain of function. This mutation truncates two amino acids from LPL's C-terminus. Carriers of LPL(S447X) have decreased VLDL levels and increased HDL levels, a cardioprotective phenotype. LPL(S447X) is used in Alipogene tiparvovec, the gene therapy product for individuals with familial LPL deficiency. It is unclear why LPL(S447X) results in a serum lipid profile more favorable than that of LPL...
January 24, 2017: Biochemistry
https://www.readbyqxmd.com/read/27941191/diagnostic-and-therapeutic-management-of-children-with-lysosomal-acid-lipase-deficiency-lal-d-review-of-the-literature-and-own-experience
#14
REVIEW
Aldona Wierzbicka-Rucińska, Wojciech Jańczyk, Agnieszka Ługowska, Dariusz Lebensztejn, Piotr Socha
Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27811232/mobility-of-hspg-bound-lpl-explains-how-lpl-is-able-to-reach-gpihbp1-on-capillaries
#15
Christopher M Allan, Mikael Larsson, Rachel S Jung, Michael Ploug, André Bensadoun, Anne P Beigneux, Loren G Fong, Stephen G Young
In mice lacking glycosylphosphatidylinositol-anchored high density lipoprotein binding protein 1 (GPIHBP1), the LPL secreted by adipocytes and myocytes remains bound to heparan sulfate proteoglycans (HSPGs) on all cells within tissues. That observation raises a perplexing issue: Why isn't the freshly secreted LPL in wild-type mice captured by the same HSPGs, thereby preventing LPL from reaching GPIHBP1 on capillaries? We hypothesized that LPL-HSPG interactions are transient, allowing the LPL to detach and move to GPIHBP1 on capillaries...
January 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/27488580/testosterone-differentially-regulates-targets-of-lipid-and-glucose-metabolism-in-liver-muscle-and-adipose-tissues-of-the-testicular-feminised-mouse
#16
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...
November 2016: Endocrine
https://www.readbyqxmd.com/read/27344369/exogenous-supplement-of-n-acetylneuraminic-acid-ameliorates-atherosclerosis-in-apolipoprotein-e-deficient-mice
#17
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
https://www.readbyqxmd.com/read/27282869/obesity-development-in-neuron-specific-lipoprotein-lipase-deficient-mice-is-not-responsive-to-increased-dietary-fat-content-or-change-in-fat-composition
#18
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
https://www.readbyqxmd.com/read/27264722/both-de-novo-synthetized-and-exogenous-fatty-acids-support-the-growth-of-hepatocellular-carcinoma-cells
#19
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...
January 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27188917/effects-of-two-therapeutic-dietary-regimens-on-primary-chylomicronemia-in-paediatric-age-a-retrospective-data-analysis
#20
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
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