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lipoprotein lipase deficiency

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https://www.readbyqxmd.com/read/29351106/the-role-of-patient-registries-for-rare-genetic-lipid-disorders
#1
David M Ng, Amanda J Hooper, Matthew I Bellgard, John R Burnett
PURPOSE OF REVIEW: We review the role, utility and current status of patient registries for rare genetic lipid disorders. RECENT FINDINGS: The creation and maintenance of rare genetic lipid disorder patient registries is critical for disease monitoring, improving clinical best practice, facilitating research and enabling the development of novel therapeutics. An open-source disease registry platform, termed the Rare Disease Registry Framework, has been developed, optimized and deployed for homozygous familial hypercholesterolemia...
January 17, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#2
Ornella Guardamagna
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of age of onset, severity and type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders,, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
January 11, 2018: Current Pediatric Reviews
https://www.readbyqxmd.com/read/29304082/striated-muscle-gene-therapy-for-the-treatment-of-lipoprotein-lipase-deficiency
#3
Katherine E Gadek, Hong Wang, Monica N Hall, Mitchell Sungello, Andrew Libby, Drew MacLaskey, Robert H Eckel, Bradley B Olwin
Excessive circulating triglycerides due to reduction or loss of lipoprotein lipase activity contribute to hypertriglyceridemia and increased risk for pancreatitis. The only gene therapy treatment for lipoprotein lipase deficiency decreases pancreatitis but minimally reduces hypertriglyceridemia. Synthesized in multiple tissues including striated muscle and adipose tissue, lipoprotein lipase is trafficked to blood vessel endothelial cells where it is anchored at the plasma membrane and hydrolyzes triglycerides into free fatty acids...
2018: PloS One
https://www.readbyqxmd.com/read/29303250/we-fret-so-you-don-t-have-to-new-models-of-the-lipoprotein-lipase-dimer
#4
Cassandra K Hayne, Hayretin Yumerefendi, Lin Cao, Jacob W Gauer, Michael J Lafferty, Brian Kuhlman, Dorothy A Erie, Saskia B Neher
Lipoprotein lipase (LPL) is a dimeric enzyme that is responsible for clearing triglyceride-rich lipoproteins from the blood. Although LPL plays a key role in cardiovascular health, an experimentally derived three-dimensional structure has not been determined. Such a structure would aid in understanding mutations in LPL that cause familial LPL deficiency in patients and help in the development of therapeutic strategies to target LPL. A major obstacle to structural studies of LPL is that LPL is an unstable protein that is difficult to produce in the quantities needed for nuclear magnetic resonance or crystallography...
January 5, 2018: Biochemistry
https://www.readbyqxmd.com/read/29288010/molecular-analysis-of-three-known-and-one-novel-lpl-variants-in-patients-with-type-i-hyperlipoproteinemia
#5
A Caddeo, R M Mancina, C Pirazzi, C Russo, K Sasidharan, J Sandstedt, S Maurotti, T Montalcini, A Pujia, T P Leren, S Romeo, P Pingitore
BACKGROUND AND AIMS: Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2, APOA5, LMF1 or GPIHBP1 genes. The aim of this study was to identify novel variants in the LPL gene causing lipoprotein lipase deficiency and to understand the molecular mechanisms. METHODS AND RESULTS: A total of 3 individuals with severe hypertriglyceridemia and recurrent pancreatitis were selected from the Lipid Clinic at Sahlgrenska University Hospital and LPL was sequenced...
November 22, 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/29246728/an-enzyme-linked-immunosorbent-assay-for-measuring-gpihbp1-levels-in-human-plasma-or%C3%A2-serum
#6
Kazuya Miyashita, Isamu Fukamachi, Manabu Nagao, Tatsuro Ishida, Junji Kobayashi, Tetsuo Machida, Kiyomi Nakajima, Masami Murakami, Michael Ploug, Anne P Beigneux, Stephen G Young, Katsuyuki Nakajima
BACKGROUND: Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPIHBP1), a glycosylphosphatidylinositol (GPI)-anchored protein of capillary endothelial cells, transports lipoprotein lipase to the capillary lumen and is essential for the lipolytic processing of triglyceride-rich lipoproteins. OBJECTIVE: Because some GPI-anchored proteins have been detected in plasma, we tested whether GPIHBP1 is present in human blood and whether GPIHBP1 deficiency or a history of cardiovascular disease affected GPIHBP1 circulating levels...
November 1, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29232702/adipose-tissue-deficiency-of-hormone-sensitive-lipase-causes-fatty-liver-in-mice
#7
Bo Xia, Guo He Cai, Hao Yang, Shu Pei Wang, Grant A Mitchell, Jiang Wei Wu
Fatty liver is a major health problem worldwide. People with hereditary deficiency of hormone-sensitive lipase (HSL) are reported to develop fatty liver. In this study, systemic and tissue-specific HSL-deficient mice were used as models to explore the underlying mechanism of this association. We found that systemic HSL deficient mice developed fatty liver in an age-dependent fashion between 3 and 8 months of age. To further explore the mechanism of fatty liver in HSL deficiency, liver-specific HSL knockout mice were created...
December 12, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29183623/role-of-angiopoietin-like-3-angptl3-in-regulating-plasma-level-of-low-density-lipoprotein-cholesterol
#8
Yu-Xin Xu, Valeska Redon, Haojie Yu, William Querbes, James Pirruccello, Abigail Liebow, Amy Deik, Kevin Trindade, Xiao Wang, Kiran Musunuru, Clary B Clish, Chad Cowan, Kevin Fizgerald, Daniel Rader, Sekar Kathiresan
BACKGROUND AND AIMS: Angiopoietin-like 3 (ANGPTL3) has emerged as a key regulator of lipoprotein metabolism in humans. Homozygous loss of ANGPTL3 function causes familial combined hypolipidemia characterized by low plasma levels of triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C). While known effects of ANGPTL3 in inhibiting lipoprotein lipase and endothelial lipase contribute to the low TG and HDL-C, respectively, the basis of low LDL-C remains unclear...
September 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29174071/exchange-transfusions-for-extreme-hypertriglyceridemia-in-a-7-week-old-infant-with-multi-organ-failure
#9
Samira Ghoor, Peter Berlyn, Naeem Brey
Severe hypertriglyceridemia is the third most common cause of acute pancreatitis and is strongly associated with an increased risk of cardiovascular disease. In infants, the most common cause of severe hypertriglyceridemia is lipoprotein lipase deficiency. We describe a 7-week-old infant with severe hypertriglyceridemia, who presented with frequent gastrointestinal bleeding, respiratory distress, a decreased level of consciousness and lipemia retinalis. Triglycerides were reduced from 734 to 2 mmol/L (64,956-177 mg/dL), by exchange transfusions...
November 2, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29162603/exogenous-insulin-infusion-can-decrease-atherosclerosis-in-diabetic-rodents-by-improving-lipids-inflammation-and-endothelial-function
#10
Kyoungmin Park, Qian Li, Net Daş Evcimen, Christian Rask-Madsen, Yasutaka Maeda, Ernesto Maddaloni, Hisashi Yokomizo, Takanori Shinjo, Ronald St-Louis, Jialin Fu, Daniel Gordin, Mogher Khamaisi, David Pober, Hillary Keenan, George L King
OBJECTIVE: The objective of this study is to evaluate whether exogenously induced hyperinsulinemia may increase the development of atherosclerosis. APPROACH AND RESULTS: Hyperinsulinemia, induced by exogenous insulin implantation in high-fat fed (60% fat HFD) apolipoprotein E-deficient mice (ApoE-/-) mice, exhibited insulin resistance, hyperglycemia, and hyperinsulinemia. Atherosclerosis was measured by the accumulation of fat, macrophage, and extracellular matrix in the aorta...
November 21, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29100061/apolipoprotein-c-ii-new-findings-related-to-genetics-biochemistry-and-role-in-triglyceride-metabolism
#11
REVIEW
Anna Wolska, Richard L Dunbar, Lita A Freeman, Masako Ueda, Marcelo J Amar, Denis O Sviridov, Alan T Remaley
Apolipoprotein C-II (apoC-II) is a small exchangeable apolipoprotein found on triglyceride-rich lipoproteins (TRL), such as chylomicrons (CM) and very low-density lipoproteins (VLDL), and on high-density lipoproteins (HDL), particularly during fasting. ApoC-II plays a critical role in TRL metabolism by acting as a cofactor of lipoprotein lipase (LPL), the main enzyme that hydrolyses plasma triglycerides (TG) on TRL. Here, we present an overview of the role of apoC-II in TG metabolism, emphasizing recent novel findings regarding its transcriptional regulation and biochemistry...
October 20, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29031715/angptl8-promotes-the-ability-of-angptl3-to-bind-and-inhibit-lipoprotein-lipase
#12
Xun Chi, Emily C Britt, Hannah W Shows, Alexander J Hjelmaas, Shwetha K Shetty, Emily M Cushing, Wendy Li, Alex Dou, Ren Zhang, Brandon S J Davies
OBJECTIVE: Several members of the angiopoietin-like (ANGPTL) family of proteins, including ANGPTL3 and ANGPTL8, regulate lipoprotein lipase (LPL) activity. Deficiency in either ANGPTL3 or ANGPTL8 reduces plasma triglyceride levels and increases LPL activity, whereas overexpression of either protein does the opposite. Recent studies suggest that ANGPTL8 may functionally interact with ANGPTL3 to alter clearance of plasma triglycerides; however, the nature of this interaction has remained elusive...
October 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/28969646/cell-therapy-could-be-a-potential-way-to-improve-lipoprotein-lipase-deficiency
#13
Wenjing Wu, Yajun Yin, Jie Zhong, Yongjia Peng, Shuncai Li, Libin Zheng, Hong Cao, Jin Zhang
BACKGROUND: Lipoprotein lipase (LPL) deficiency is an autosomal recessive genetic disorder characterized by extreme hypertriglyceridemia, with no cure presently available. The purpose of this study was to test the possibility of using cell therapy to alleviate LPL deficiency. METHODS: The LPL coding sequence was cloned into the MSCV retrovirus vector, after which MSCV-hLPL and MSCV (empty construct without LPL coding sequence) virion suspensions were made using the calcium chloride method...
October 2, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28958672/severe-hypertriglyceridemia-in-japan-differences-in-causes-and-therapeutic-responses
#14
Toshio Murase, Minoru Okubo, Tetsu Ebara, Yasumichi Mori
BACKGROUND: Severe hypertriglyceridemia (>1000 mg/dL) has a variety of causes and frequently leads to life-threating acute pancreatitis. However, the origins of this disorder are unclear for many patients. OBJECTIVE: We aimed to characterize the causes of and responses to therapy in rare cases of severe hypertriglyceridemia in a group of Japanese patients. METHODS: We enrolled 121 patients from a series of case studies that spanned 30 years...
August 24, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28954222/lipoprotein-lipase-maintains-microglial-innate-immunity-in-obesity
#15
Yuanqing Gao, Andrés Vidal-Itriago, Martin J Kalsbeek, Clarita Layritz, Cristina García-Cáceres, Robby Zachariah Tom, Thomas O Eichmann, Frédéric M Vaz, Riekelt H Houtkooper, Nicole van der Wel, Arthur J Verhoeven, Jie Yan, Andries Kalsbeek, Robert H Eckel, Susanna M Hofmann, Chun-Xia Yi
Consumption of a hypercaloric diet upregulates microglial innate immune reactivity along with a higher expression of lipoprotein lipase (Lpl) within the reactive microglia in the mouse brain. Here, we show that knockdown of the Lpl gene specifically in microglia resulted in deficient microglial uptake of lipid, mitochondrial fuel utilization shifting to glutamine, and significantly decreased immune reactivity. Mice with knockdown of the Lpl gene in microglia gained more body weight than control mice on a high-carbohydrate high-fat (HCHF) diet...
September 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/28951076/incidental-finding-of-severe-hypertriglyceridemia-in-children-role-of-multiple-rare-variants-in-genes-affecting-plasma-triglyceride
#16
Paola Sabrina Buonuomo, Claudio Rabacchi, Marina Macchiaiolo, Chiara Trenti, Tommaso Fasano, Patrizia Tarugi, Andrea Bartuli, Stefano Bertolini, Sebastiano Calandra
BACKGROUND: The incidental finding of severe hypertriglyceridemia (HyperTG) in a child may suggest the diagnosis of familial chylomicronemia syndrome (FCS), a recessive disorder of the intravascular hydrolysis of triglyceride (TG)-rich lipoproteins. FCS may be due to pathogenic variants in lipoprotein lipase (LPL), as well as in other proteins, such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface) and LMF1 (a factor required for intracellular formation of active LPL)...
November 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#17
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28882870/crispr-cas9-mediated-gene-editing-in-human-ipsc-derived-macrophage-reveals-lysosomal-acid-lipase-function-in-human-macrophages-brief-report
#18
Hanrui Zhang, Jianting Shi, Melanie A Hachet, Chenyi Xue, Robert C Bauer, Hongfeng Jiang, Wenjun Li, Junichiro Tohyama, John Millar, Jeffrey Billheimer, Michael C Phillips, Babak Razani, Daniel J Rader, Muredach P Reilly
OBJECTIVE: To gain mechanistic insights into the role of LIPA (lipase A), the gene encoding LAL (lysosomal acid lipase) protein, in human macrophages. APPROACH AND RESULTS: We used CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 (CRISPR-associated protein 9) technology to knock out LIPA in human induced pluripotent stem cells and then differentiate to macrophage (human-induced pluripotent stem cells-derived macrophage [IPSDM]) to explore the human macrophage LIPA loss-of-function phenotypes...
November 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28881270/molecular-and-clinical-characterization-of-a-series-of-patients-with-childhood-onset-lysosomal-acid-lipase-deficiency-retrospective-investigations-follow-up-and-detection-of-two-novel-lipa-pathogenic-variants
#19
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical and molecular characterization of 14 (13 unrelated) previously unreported patients with childhood-onset LAL-D...
October 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28710138/disruption-of-lipid-uptake-in-astroglia-exacerbates-diet-induced-obesity
#20
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 have little relevance for such neuroendocrine control, we investigated whether lipid uptake via lipoprotein lipase (LPL) in astrocytes is required to centrally regulate energy homeostasis. Ex vivo studies with hypothalamus-derived astrocytes showed that LPL expression is upregulated by oleic acid, whereas it is decreased in response to palmitic acid or triglycerides...
October 2017: Diabetes
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