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https://www.readbyqxmd.com/read/28323660/impact-of-rare-variants-in-autosomal-dominant-hypercholesterolemia-causing-genes
#1
Sebastiano Calandra, Patrizia Tarugi, Stefano Bertolini
PURPOSE OF REVIEW: The systematic analysis of the major candidate genes in autosomal dominant hypercholesterolemia (ADH) and the use of next-generation sequencing (NGS) technology have made possible the discovery of several rare gene variants whose pathogenic effect in most cases remains poorly defined. RECENT FINDINGS: One major advance in the field has been the adoption of a set of international guidelines for the assignment of pathogenicity to low-density lipoprotein receptor (LDLR) gene variants based on the use of softwares, complemented with data available from literature and public databases...
March 18, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28319871/autoantibodies-and-immune-complexes-to-oxidation-specific-epitopes-and-progression-of-aortic-stenosis-results-from-the-astronomer-trial
#2
Romain Capoulade, Kwan L Chan, Patrick Mathieu, Yohan Bossé, Jean G Dumesnil, James W Tam, Koon K Teo, Xiaohong Yang, Joseph L Witztum, Benoit J Arsenault, Jean-Pierre Després, Philippe Pibarot, Sotirios Tsimikas
BACKGROUND AND AIMS: Elevated levels of lipoprotein(a) [Lp(a)] and oxidized phospholipids on apolipoprotein B-100 (OxPL-apoB) predict the progression of pre-existing mild-to-moderate calcific aortic valve stenosis (CAVS). Whether indirect markers of oxidation-specific epitopes (OSE) are also predictive is not known. The association between IgG and IgM autoantibodies and malondialdehyde-modified low density lipoprotein (MDA-LDL) and IgG and IgM apolipoprotein B immune complexes (apoB-IC), and the hemodynamic progression rate of CAVS was determined in the ASTRONOMER (Aortic Stenosis Progression Observation: Measuring Effects of Rosuvastatin, NCT00800800) trial...
March 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28317946/serum-lipid-profiles-and-dyslipidaemia-are-associated-with-retinal-microvascular-changes-in-children-and-adolescents
#3
Wei Xiao, Xinxing Guo, Xiaohu Ding, Mingguang He
The present study aims to assess the relationship between serum lipid parameters and retinal microvascular calibres in children and adolescents. A total of 950 participants aged 7 to 19 years were recruited. Central retinal arteriolar equivalent (CRAE) and central retinal venular equivalent (CRVE) were measured from digital retinal images. Serological testing was performed to obtain lipid profiles. Dyslipidaemia was defined according to the US national expert panel guideline. After adjusted for age, sex, mean arterial blood pressure, axial length, body mass index and the fellow retinal vascular calibre, no significant association was found between retinal vascular diameters and any lipid parameters (all P > 0...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28304324/assessment-of-serum-apolipoprotien-b-and-apolipoprotein-a-1-and-their-ratio-in-healthy-full-term-small-for-gestational-age-newborns
#4
A Agrawal, J Shrivastava, R Dwivedi, M Siddiqui
BACKGROUND: Programmed changes in growth restricted fetuses can increase the risk of adulthood diseases due to elevated serum cholesterol and apolipoprotein-B (Apo-B) concentrations. Increasing evidence demonstrated the role of apoB/apoA-I ratio as a strong risk factor for cardiovascular diseases. OBJECTIVE: To determine the concentration of cord blood lipoproteins and apolipoproteins as well as their correlation with birth weight. METHODS: This cross-sectional study was conducted in a teaching institution of central India...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28300165/somatic-genome-editing-with-crispr-cas9-generates-and-corrects-a-metabolic-disease
#5
Kelsey E Jarrett, Ciaran M Lee, Yi-Hsien Yeh, Rachel H Hsu, Rajat Gupta, Min Zhang, Perla J Rodriguez, Chang Seok Lee, Baiba K Gillard, Karl-Dimiter Bissig, Henry J Pownall, James F Martin, Gang Bao, William R Lagor
Germline manipulation using CRISPR/Cas9 genome editing has dramatically accelerated the generation of new mouse models. Nonetheless, many metabolic disease models still depend upon laborious germline targeting, and are further complicated by the need to avoid developmental phenotypes. We sought to address these experimental limitations by generating somatic mutations in the adult liver using CRISPR/Cas9, as a new strategy to model metabolic disorders. As proof-of-principle, we targeted the low-density lipoprotein receptor (Ldlr), which when deleted, leads to severe hypercholesterolemia and atherosclerosis...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28299190/apolipoprotein-b-containing-lipoproteins-and-atherosclerotic-cardiovascular-disease
#6
REVIEW
Michael D Shapiro, Sergio Fazio
Cholesterol-rich, apolipoprotein B (apoB)-containing lipoproteins are now widely accepted as the most important causal agents of atherosclerotic cardiovascular disease. Multiple unequivocal and orthogonal lines of evidence all converge on low-density lipoprotein and related particles as being the principal actors in the genesis of atherosclerosis. Here, we review the fundamental role of atherogenic apoB-containing lipoproteins in cardiovascular disease and several other humoral and parietal factors that are required to initiate and maintain arterial degeneration...
2017: F1000Research
https://www.readbyqxmd.com/read/28296203/high-throughput-quantification-of-apolipoproteins-a-i-and-b-100-by-isotope-dilution-mass-spectrometry-targeting-fast-trypsin-releasable-peptides-without-reduction-and-alkylation
#7
Bryan A Parks, David M Schieltz, Michael L Andrews, Michael S Gardner, Jon C Rees, Christopher A Toth, Jeffrey I Jones, Lisa G McWilliams, Zsuzsanna Kuklenyik, James L Pirkle, John R Barr
PURPOSE: Apolipoprotein A-I (ApoA-I) and Apolipoprotein B-100 (ApoB-100) are amphipathic proteins that are strong predictors of cardiovascular disease risk. The traceable calibration of apolipoprotein assays is a persistent challenge, especially for ApoB-100, which cannot be solubilized in purified form. EXPERIMENTAL DESIGN: Simultaneous quantitation method for ApoA-I and ApoB-100 was developed using tryptic digestion without pre-digestion reduction and alkylation, followed by liquid chromatography separation coupled with isotope dilution mass spectrometry (IDMS) analysis...
March 10, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28294290/genetic-obesity-risk-and-attenuation-effect-of-physical-fitness-in-mexican-mestizo-population-a-case-control-study
#8
Paula Costa-Urrutia, Carolina Abud, Valentina Franco-Trecu, Valentina Colistro, Martha Eunice Rodríguez-Arellano, Joel Vázquez-Pérez, Julio Granados, Marilia Seelaender
We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) values from 18 to 55 kg/m(2) . For each SNP and for the GRS, logistic models were performed to test for simple SNP associations with BMI, fat mass percentage (FMP), waist circumference (WC), and the interaction with VO2max and muscular endurance (ME)...
March 15, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28290840/-elevated-lipoprotein-a-cncentration-and-presence-of-subfractions-of-small-dense-low-density-lipoproteins-as-independent-factors-of-risk-of-ischemic-heart-disease
#9
O I Afanasieva, E A Utkina, N V Artemieva, M V Ezhov, I Yu Adamova, S N Pokrovsky
AIM: To study relation of lipoproteina - Lp(a) and subfractional composition of apoB containing lipoproteins to the presence of ischemic heart disease (IHD). Manerial and methods. Parameters of lipid spectrum, Lp(a), and subfractions of apoB containing lipoproteins were determined in blood serum of 187 patients with known data of instrumental examination. RESULTS: Lp(a) concentration was not linked to any of risk factors, levels total cholesterol (TC), low and high density lipoprotein CH, and subfractions of lipoproteins...
June 2016: Kardiologiia
https://www.readbyqxmd.com/read/28285655/correlation-of-metabolic-syndrome-severity-with-cardiovascular-health-markers-in-adolescents
#10
Arthur M Lee, Matthew J Gurka, Mark D DeBoer
BACKGROUND AND OBJECTIVES: The presence of metabolic syndrome (MetS) in childhood is a significant risk factor for later cardiovascular disease (CVD). Recent data showed temporal decreases in a sex- and race/ethnicity-specific MetS severity z-score among U.S. adolescents. Our goal was to characterize the relationship of this MetS z-score with other CVD risk indicators and assess their temporal trends and lifestyle influences. METHODS: We analyzed 4837 participants aged 12-20years from the National Health and Nutrition Examination Survey by 2-year waves from 1999 to 2012...
April 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/28284064/aberrant-expression-of-microrna-induced-by-high-fructose-diet-implications-in-the-pathogenesis-of-hyperlipidemia-and-hepatic-insulin-resistance
#11
Neetu Sud, Hanyuan Zhang, Kaichao Pan, Xiao Cheng, Juan Cui, Qiaozhu Su
Fructose is a highly lipogenic sugar that can alter energy metabolism and trigger metabolic disorders. In the current study, microRNAs (miRNAs) altered by a high-fructose diet were comprehensively explored to elucidate their significance in the pathogenesis of chronic metabolic disorders. miRNA expression profiling using small noncoding RNA sequencing revealed that 19 miRNAs were significantly upregulated and 26 were downregulated in the livers of high-fructose-fed mice compared to chow-fed mice. Computational prediction and functional analysis identified 10 miRNAs, miR-19b-3p, miR-101a-3p, miR-30a-5p, miR-223-3p, miR-378a-3p, miR-33-5p, miR-145a-3p, miR-128-3p, miR-125b-5p and miR-582-3p, assembled as a regulatory network to potentially target key genes in lipid and lipoprotein metabolism and insulin signaling at multiple levels...
February 20, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28282790/the-anti-diabetic-and-anti-obesity-effect-of-memecylon-umbellatum-extract-in-high-fat-diet-induced-obese-mice
#12
V Sunil, Nitya Shree, M V Venkataranganna, Ramesh R Bhonde, Mala Majumdar
In recent years, obesity and diabetes have become the epidemic mainly due to fast food and lifestyle changes. Several herbs have been claimed to control diabetes and obesity. However, there are a few which control both. Our aim was to evaluate the anti-diabetic and anti-obesity activity of methanolic extract of Memecylon umbellatum (MU) in alleviation of insulin resistance (IR). Diet induced obese (DIO) mice model was developed by feeding the mice on high fat diet (HFD) for 10 weeks resulting in hyperglycemia, obesity and IR...
March 6, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28280493/t-cells-specific-for-a-self-peptide-of-apob-100-exacerbate-aortic-atheroma-in-murine-atherosclerosis
#13
Michael K Shaw, Kevin Y Tse, Xiaoqing Zhao, Kathryn Welch, Daniel T Eitzman, Raghavendar R Thipparthi, Paul C Montgomery, Ryan Thummel, Harley Y Tse
On the basis of mouse I-A(b)-binding motifs, two sequences of the murine apolipoprotein B-100 (mApoB-100), mApoB-1003501-3515 (designated P3) and mApoB-100978-992 (designated P6), were found to be immunogenic. In this report, we show that P6 is also atherogenic. Immunization of Apoe(-/-) mice fed a high-fat diet (HFD) with P6 resulted in enhanced development of aortic atheroma as compared to control mice immunized with an irrelevant peptide MOG35-55 or with complete Freund's adjuvant alone. Adoptive transfer of lymph node cells from P6-immunized donor mice to recipients fed an HFD caused exacerbated aortic atheromas, correlating P6-primed cells with disease development...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28264492/lifestyle-and-dietary-determinants-of-serum-apolipoprotein-a1-and-apolipoprotein-b-concentrations-cross-sectional-analyses-within-a-swedish-cohort-of-24-984-individuals
#14
Kasper Frondelius, Madelene Borg, Ulrika Ericson, Yan Borné, Olle Melander, Emily Sonestedt
Low serum apolipoprotein (Apo) A1 concentrations and high serum ApoB concentrations may be better markers of the risk of cardiovascular disease than high-density lipoprotein (HDL) and low-density lipoprotein (LDL). However, the associations between modifiable lifestyle factors and Apo concentrations have not been investigated in detail. Therefore, this study investigated the associations between Apo concentrations and education, lifestyle factors and dietary intake (macronutrients and 34 food groups). These cross-sectional associations were examined among 24,984 individuals in a Swedish population-based cohort...
February 28, 2017: Nutrients
https://www.readbyqxmd.com/read/28264392/revision-of-i-chimarrogale-i-lipotyphla-soricidae-from-vietnam-with-comments-on-taxonomy-and-biogeography-of-asiatic-water-shrews
#15
Alexei V Abramov, Anna A Bannikova, Vladimir S Lebedev, Viatcheslav V Rozhnov
We analyzed the complete mitochondrial cytochrome b (cytb) gene and fragments of four nuclear loci: ApoB, RAG2, IRBP1 and BRCA1. These data allowed us to provide new insights into the diversity of the Asiatic water shrews of Indochina. A new, highly divergent genetic lineage of Chimarrogale was found in southern Vietnam, and this lineage included specimens from the provinces of Kon Tum, Dak Lak, and Lam Dong. Such finding represents the newest and southernmost records of Chimarrogale in Indochina. Morphological analysis classified the specimens from southern Vietnam as C...
February 15, 2017: Zootaxa
https://www.readbyqxmd.com/read/28260758/association-of-metabolic-syndrome-with-hyper-apolipoprotein-b-status-in-young-people-with-acute-coronary-syndrome
#16
G P Aditya, M S Bari, M A Bari, M A Mutalib, G K Paul
Prevalence of Metabolic Syndrome (MetS) and acute coronary syndrome (ACS) in young people is progressively increasing. This was originally a case control study to predict the risk of ACS with hyper apolipoprotein B (Hyper apoB) status in young people, with 50 cases of 18-45 years of age of both sex with first attack of acute coronary syndrome admitted in Coronary care unit of Mymensingh Medical College Hospital from June 2009 to May 2010 and for comparison, equal number of age and sex matched healthy controls were chosen...
January 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28259941/consumption-of-policosanol-enhances-hdl-functionality-via-cetp-inhibition-and-reduces-blood-pressure-and-visceral-fat-in-young-and-middle-aged-subjects
#17
Jae-Yong Kim, Seong-Min Kim, Suk-Jeong Kim, Eun-Young Lee, Jae-Ryong Kim, Kyung-Hyun Cho
It is well-known that policosanol can improve serum lipid profiles, although the physiological mechanism is still unknown. Here, we investigated functional and structural changes in lipoproteins after consumption of policosanol. To investigate the physiological effect of policosanol, we analyzed serum parameters in young non-smoker (YN; n=7, 24.0±2.4 years), young smoker (YS; n=7, 26.3±1.5 years), and middle-aged subjects (MN; n=11, 52.5±9.8 years) who consumed policosanol daily (10 mg/day) for 8 weeks...
February 24, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28255847/n-3-benzoylphenyl-1h-indole-2-carboxamide-decreases-triglyceride-levels-by-downregulation-of-apoc3-gene-expression-in-acute-hyperlipidemic-rat-model
#18
Lama Hamadneh, Luay Al-Essa, Suhair Hikmat, Tariq Al-Qirim, Ghassan Abu Sheikha, Yusuf Al-Hiari, Nisrin Azmy, Ghassan Shattat
Hyperlipidemia is a known cause of coronary vascular diseases, which is a major cause of death in many parts of the world. Targeting several pathways that lead to increase in lipid profiles is of great potential to control diseases. 1H-indole-2-carboxamide derivatives were tested for their hypolipidemic activity at the molecular level in comparison with bezafibrate. The gene expression profiles of lipoprotein signaling and cholesterol metabolism and fatty acid metabolism PCR arrays were determined in rats with acute hyperlipidemia induced by Triton WR1339...
March 2, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28255216/analysis-of-apolipoprotein-b-protein-of-circulating-multiple-modified-low-density-lipoprotein
#19
Emile R Zakiev, Vasily N Sukhorukov, Ekaterina A Ivanova, Alexander N Orekhov
Modified low-density lipoprotein (LDL) is the main source of lipid accumulation in the arterial wall affected by atherosclerosis. We aimed to compare the properties of apolipoprotein B (apoB) from native and modified LDL. Modified (desialylated) LDL and native LDL were extracted from blood of atherosclerotic patients. We characterized apoB structure of LDL particles in total LDL preparation, circulating modified LDL (cmLDL), and native LDL. Intact cmLDL had a twofold lower content of free amino groups than native LDL...
March 2017: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/28242600/the-susceptibility-gene-screening-in-a-chinese-high-altitude-pulmonary-edema-family-by-whole-exome-sequencing
#20
Yang Yingzhong, Wang Yaping, Xu Jin, Ge Rili
High-altitude pulmonary edema (HAPE) is one of idiopathic mountain sicknesses that occur in healthy lowlanders when they quickly ascend to altitudes exceeding 2500 m above sea levels within 1-7 days. Growing evidence suggests that genetics plays an important role in the risk of HAPE. In this study, we recruited a Chinese HAPE family and screened genetic variations in the 7 family members (including 6 family members with a medical history of HAPE and the propositus's mother) by whole-exome sequencing. The results showed 18 genetic variations (9 SNVs and 9 Indels) were related to HAPE...
February 20, 2017: Yi Chuan, Hereditas
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