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lipoprotein lipase deficiency

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https://www.readbyqxmd.com/read/28641384/acute-testosterone-deficiency-alters-adipose-tissue-fatty-acid-storage
#1
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/28529016/eruptive-xanthomas-in-lipoprotein-lipase-deficiency
#2
Paola Sabrina Buonuomo, Monica Malamisura, Marina Macchiaiolo, Ippolita Rana, Michaela Veronika Gonfiantini, Gerarda Mastrogiorgio, Andrea Bartuli
No abstract text is available yet for this article.
May 18, 2017: Journal of Pediatrics
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...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28502512/metreleptin-therapy-lowers-plasma-angiopoietin-like-protein-3-in-patients-with-generalized-lipodystrophy
#4
Ranganath Muniyappa, Brent S Abel, Asha Asthana, Mary F Walter, Elaine K Cochran, Alan T Remaley, Monica C Skarulis, Phillip Gorden, Rebecca J Brown
BACKGROUND: Reduced triglyceride clearance due to impaired lipoprotein lipase-mediated lipolysis contributes to severe hypertriglyceridemia in lipodystrophy. Angiopoietin-like protein 3 (ANGPTL3) and 4 (ANGPTL4) impair clearance of triglycerides by inhibiting lipoprotein lipase. Whether circulating ANGPTL3/4 levels are altered in lipodystrophy and the effects of leptin replacement on these ANGPTLs are unknown. OBJECTIVE: To examine if ANGPTL3/4 levels are elevated in patients with generalized lipodystrophy and assess the effects of leptin replacement on these ANGPTLs...
March 2017: Journal of Clinical Lipidology
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
#5
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
#6
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
#7
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
#8
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/28427397/hvc1-ameliorates-hyperlipidemia-and-inflammation-in-ldlr-mice
#9
Se-Yun Cheon, Kyung-Sook Chung, Kyung-Jin Lee, Ho-Young Choi, In-Hye Ham, Dong-Hoon Jung, Yun-Yeop Cha, Hyo-Jin An
BACKGROUND: HVC1 consists of Coptidis Rhizoma (dried rhizome of Coptischinensis), Scutellariae Radix (root of Scutellariabaicalensis), Rhei Rhizoma (rhizome of Rheum officinale), and Pruni Cortex (cortex of Prunusyedoensis Matsum). Although the components are known to be effective in various conditions such as inflammation, hypertension, and hypercholesterolemia, there are no reports of the molecular mechanism of its hypolipidemic effects. METHODS: We investigated the hypolipidemic effect of HVC1 in low-density lipoprotein receptor-deficient (LDLR(-/-)) mice fed a high-cholesterol diet for 13 weeks...
April 20, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28404638/kidney-triglyceride-accumulation-in-the-fasted-mouse-is-dependent-upon-serum-free-fatty-acids
#10
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/28402248/autoantibodies-against-gpihbp1-as-a-cause-of-hypertriglyceridemia
#11
Anne P Beigneux, Kazuya Miyashita, Michael Ploug, Dirk J Blom, Masumi Ai, MacRae F Linton, Weerapan Khovidhunkit, Robert Dufour, Abhimanyu Garg, Maureen A McMahon, Clive R Pullinger, Norma P Sandoval, Xuchen Hu, Christopher M Allan, Mikael Larsson, Tetsuo Machida, Masami Murakami, Karen Reue, Peter Tontonoz, Ira J Goldberg, Philippe Moulin, Sybil Charrière, Loren G Fong, Katsuyuki Nakajima, Stephen G Young
BACKGROUND: A protein that is expressed on capillary endothelial cells, called GPIHBP1 (glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1), binds lipoprotein lipase and shuttles it to its site of action in the capillary lumen. A deficiency in GPIHBP1 prevents lipoprotein lipase from reaching the capillary lumen. Patients with GPIHBP1 deficiency have low plasma levels of lipoprotein lipase, impaired intravascular hydrolysis of triglycerides, and severe hypertriglyceridemia (chylomicronemia)...
April 27, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28395380/streptozotocin-treated-high-fat-fed-mice-a-new-type-2-diabetes-model-used-to-study-canagliflozin-induced-alterations-in-lipids-and-lipoproteins
#12
Tian Yu, Mitchell J Sungelo, Ira J Goldberg, Hong Wang, Robert H Eckel
The pharmacological effects of type 2 diabetes (T2DM) medications on lipoprotein metabolism are difficult to assess in preclinical models because those created failure to replicate the human condition in which insulin deficiency is superimposed on obesity-related insulin resistance. To create a better model, we fed mice with high fat (HF) diet and treated the animals with low dose streptozotocin (STZ) to mimic T2DM. We used this model to evaluate the effects of canagliflozin (CANA), a drug that reduces plasma glucose by inhibiting the sodium-glucose transporter 2 (SGLT2), which mediates ~90% of renal glucose reabsorption] on lipid and lipoprotein metabolism...
May 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
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
#13
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/28389321/cardiovascular-gene-therapy-past-present-and-future
#14
REVIEW
Seppo Ylä-Herttuala, Andrew H Baker
Cardiovascular diseases remain a large global health problem. Although several conventional small-molecule treatments are available for common cardiovascular problems, gene therapy is a potential treatment option for acquired and inherited cardiovascular diseases that remain with unmet clinical needs. Among potential targets for gene therapy are severe cardiac and peripheral ischemia, heart failure, vein graft failure, and some forms of dyslipidemias. The first approved gene therapy in the Western world was indicated for lipoprotein lipase deficiency, which causes high plasma triglyceride levels...
May 3, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28327359/regulation-of-secretion-and-enzymatic-activity-of-lipoprotein-lipase-by-c-mannosylation
#15
Sawako Okamoto, Takeyoshi Murano, Takehiro Suzuki, Shiho Uematsu, Yuki Niwa, Yukiko Sasazawa, Naoshi Dohmae, Hideaki Bujo, Siro Simizu
Lipoprotein lipase (LPL) is a crucial enzyme in lipid metabolism and transport, and its enzymatic deficiency causes metabolic disorders, such as hypertriglyceridemia. LPL has one predicted C-mannosylation site at Trp(417). In this study, we demonstrated that LPL is C-mannosylated at Trp(417) by mass spectrometry. Furthermore, by using wild-type and a C-mannosylation-defective mutant of LPL-overexpressing cell lines, we revealed that both secretion efficiency and enzymatic activity of C-mannosylation-defective mutant LPL were lower than those of wild-type...
April 29, 2017: Biochemical and Biophysical Research Communications
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
#16
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
#17
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/28267856/association-of-rare-and-common-variation-in-the-lipoprotein-lipase-gene-with-coronary-artery-disease
#18
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan
Importance: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic activity and can provide insight into the relationship of LPL to human disease. Objective: To determine whether rare and/or common variants in LPL are associated with early-onset coronary artery disease (CAD). Design, Setting, and Participants: In a cross-sectional study, LPL was sequenced in 10 CAD case-control cohorts of the multinational Myocardial Infarction Genetics Consortium and a nested CAD case-control cohort of the Geisinger Health System DiscovEHR cohort between 2010 and 2015...
March 7, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#19
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/28126606/regulation-of-the-human-lipoprotein-lipase-gene-by-the-forkhead-box-transcription-factor-foxa2-hnf-3%C3%AE-in-hepatic-cells
#20
Maria Kanaki, Dimitris Kardassis
Lipoprotein lipase (LPL) plays a major role in the hydrolysis of triglycerides (TG) from circulating TG-rich lipoproteins. The role of LPL in the liver has been controversial but recent studies in mice with liver LPL overexpression or deficiency have revealed important new roles of the enzyme in glucose and lipid metabolism. The objective of this study was to identify regulatory elements and factors that control the transcription of the human LPL gene in hepatocytes. Deletion analysis of the human LPL promoter revealed that the proximal region which harbors a binding site for the forkhead box transcription factor FOXA2/HNF-3β at position -47/-40 is important for its hepatic cell activity...
March 2017: Biochimica et Biophysica Acta
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