324 results match your criteria Low HDL Cholesterol Hypoalphalipoproteinemia


Is long-term PM exposure associated with blood lipids and dyslipidemias in a Chinese rural population?

Environ Int 2020 May 8;138:105637. Epub 2020 Mar 8.

Department of Epidemiology and Preventive Medicine, School of Public Health and Preventive Medicine, Monash University, Melbourne, Australia; Department of Epidemiology and Biostatistics, School of Public Health, Zhengzhou University, Zhengzhou, Henan, China.

Background: Air pollution has been shown to be associated with blood lipid levels. However, studies on long-term ambient particulate matter with aerodynamic diameter ≤1 μm (PM) exposure in high-exposure areas are still limited. This study aimed to explore the associations among long-term PM exposure, blood lipids and dyslipidemias. Read More

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http://dx.doi.org/10.1016/j.envint.2020.105637DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7152799PMC

LIPA gene mutations affect the composition of lipoproteins: Enrichment in ACAT-derived cholesteryl esters.

Atherosclerosis 2020 Mar 31;297:8-15. Epub 2020 Jan 31.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy. Electronic address:

Background And Aims: Cholesteryl ester storage disease (CESD) due to LIPA gene mutations is characterized by hepatic steatosis, hypercholesterolemia and hypoalphalipoproteinemia, exposing affected patients to an increased cardiovascular risk. Further insights into the impact of LIPA gene mutations on lipid/lipoprotein metabolism are limited. Aim of the study was to investigate the effect of carrying one or two mutant LIPA alleles on lipoprotein composition and function. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2020.01.026DOI Listing

R230C but not - 565C/T variant of the ABCA1 gene is associated with type 2 diabetes in Mexicans through an effect on lowering HDL-cholesterol levels.

J Endocrinol Invest 2020 Feb 3. Epub 2020 Feb 3.

Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Vasco de Quiroga #15, Tlalpan, Belisario Domínguez Sección XVI, 14080, Mexico City, Mexico.

Purpose: Type 2 diabetes (T2D) and low serum concentration of high-density lipoprotein cholesterol (HDL-c) are common coexisting metabolic disorders. ABCA1 variants have been shown to be associated to these conditions. We sought to test the combined effect of two ABCA1 gene common variants, rs2422493 (- 565C > T) and rs9282541 (R230C) on HDL-c levels and T2D risk. Read More

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http://dx.doi.org/10.1007/s40618-020-01187-8DOI Listing
February 2020

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Lipids Health Dis 2019 Jun 5;18(1):132. Epub 2019 Jun 5.

Department of Nutrition, Diabetes and Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Background: Lecithin-cholesterol acyltransferase (LCAT) is a plasma enzyme that esterifies cholesterol in high- and low-density lipoproteins (HDL and LDL). Mutations in LCAT gene causes familial LCAT deficiency, which is characterized by very low plasma HDL-cholesterol levels (Hypoalphalipoproteinemia), corneal opacity and anemia, among other lipid-related traits. Our aim is to evaluate clinical/biochemical features of a Chilean family with a proband showing clinical signs of familial LCAT deficiency, as well as to identify and assess the functional effects of LCAT mutations. Read More

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http://dx.doi.org/10.1186/s12944-019-1045-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549291PMC
June 2019
6 Reads
2.219 Impact Factor

Paraoxonase-1 activities in individuals with different HDL circulating levels: Implication in reverse cholesterol transport and early vascular damage.

Atherosclerosis 2019 06 11;285:64-70. Epub 2019 Apr 11.

Department of Medical Sciences, Internal Medicine and CardioRespiratory Section, University of Ferrara, Ferrara, Italy. Electronic address:

Background And Aims: Epidemiological data showing that high-density lipoprotein cholesterol (HDL-C) is inversely associated with cardiovascular disease have led to the idea that cholesterol contained in this lipoprotein may be protective. Against, recent evidence suggests that the athero-protection from HDLs may result from other functions, unrelated to the carried cholesterol. HDL accessory proteins, such as paraoxonase 1 (PON1), have been suggested to endows HDL with antioxidant and anti-inflammatory properties and to contribute to the athero-protective function of the lipoprotein. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2019.04.218DOI Listing
June 2019
7 Reads

HIV disease, metabolic dysfunction and atherosclerosis: A three year prospective study.

PLoS One 2019 18;14(4):e0215620. Epub 2019 Apr 18.

Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.

HIV infection is known to be associated with cardiometabolic abnormalities; here we investigated the progression and causes of these abnormalities. Three groups of participants were recruited: HIV-negative subjects and two groups of treatment-naïve HIV-positive subjects, one group initiating antiretroviral treatment, the other remaining untreated. Intima-media thickness (cIMT) increased in HIV-positive untreated group compared to HIV-negative group, but treatment mitigated the difference. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0215620PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6472799PMC
January 2020
28 Reads

[Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review].

Ann Pathol 2019 Apr 12;39(2):172-176. Epub 2018 Dec 12.

Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France; Inserm U1263, C2VN, Aix Marseille université, 13006 Marseille, France.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Read More

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http://dx.doi.org/10.1016/j.annpat.2018.09.005DOI Listing
April 2019
6 Reads

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.

Biochem Biophys Res Commun 2019 01 30;508(2):487-493. Epub 2018 Nov 30.

Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Italy; Pasteur Institute Cenci Bolognetti Foundation, Sapienza University of Rome, Italy. Electronic address:

Tangier disease is a rare disorder of lipoprotein metabolism that presents with extremely low levels of HDL cholesterol and apoprotein A-I. It is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Clinical heterogeneity and mutational pattern of Tangier disease are poorly characterized. Read More

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http://dx.doi.org/10.1016/j.bbrc.2018.11.064DOI Listing
January 2019
8 Reads

NUtraceutical TReatment for hYpercholesterolemia in HIV-infected patients: The NU-TRY(HIV) randomized cross-over trial.

Atherosclerosis 2019 01 14;280:51-57. Epub 2018 Nov 14.

Unit of Infectious Diseases, Department of Medicine, University of Perugia, Perugia, 06129, Italy.

Background And Aims: Despite hypercholesterolemia has been recognized to increase cardiovascular risk in human immunodeficiency virus (HIV)-infected patients, cholesterol-lowering therapy is underused in this population, due to fear of drug-drug interactions with antiretroviral therapy (ART). We investigated the effects of a nutraceutical combination (NC) on lipid profile, proprotein convertase subtilisin/kexin type 9 (PCSK9), subclinical inflammation and arterial stiffness in ART-treated HIV-infected patients.

Methods: This was a prospective randomized open-label trial with a cross-over design including 30 stable HIV-infected patients on ART with low-density lipoprotein cholesterol (LDL-C) >115 mg/dL, not taking lipid-lowering treatment. Read More

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.11.026DOI Listing
January 2019
42 Reads

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

J Clin Lipidol 2018 Nov - Dec;12(6):1374-1382. Epub 2018 Sep 1.

Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie- Santé, Saint Joseph University, Beirut, Lebanon; INSERM LVTS U1148, Hôpital Bichat-Claude Bernard, Paris, France. Electronic address:

Background: The Middle East region is characterized by low levels of high-density lipoprotein cholesterol (HDL-C). To date, no genetic study has investigated the cause of low HDL-C in the Lebanese population.

Objective: Our objective was to study the genetic causes for hypoalphalipoproteinemia in a Lebanese family with extremely low HDL-C levels. Read More

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http://dx.doi.org/10.1016/j.jacl.2018.08.013DOI Listing
October 2019
42 Reads

Is Low-Density Lipoprotein Cholesterol the Key to Interpret the Role of Lecithin:Cholesterol Acyltransferase in Atherosclerosis?

Circulation 2018 09;138(10):1008-1011

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia (C.V., M.C.).

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https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.118.0
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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035358DOI Listing
September 2018
50 Reads

Hypoalphalipoproteinemia and BRAF Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.

Arterioscler Thromb Vasc Biol 2018 08;38(8):1913-1925

Inserm, Institute of Cardiometabolism and Nutrition (ICAN), UMR_S1166, Hôpital de la Pitié, Sorbonne Université, Paris, France (M.G., F.S.-C., Y.A., E.F., P.L., W.L.G.).

Objective- Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the infiltration of multiple tissues with lipid-laden histiocytes. Cardiovascular involvement is frequent in ECD and leads to a severe prognosis. The objective of this study was to determine whether an alteration of lipid metabolism participates in the lipid accumulation in histiocytes and the cardiovascular involvement in ECD. Read More

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http://dx.doi.org/10.1161/ATVBAHA.118.310803DOI Listing
August 2018
48 Reads

High density lipoprotein cholesterol and cancer: Marker or causative?

Prog Lipid Res 2018 07 4;71:54-69. Epub 2018 Jun 4.

Department of Hypertension, WAM University Hospital in Lodz, Medical University of Lodz, Zeromskiego 113, Lodz, Poland; Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland; Cardiovascular Research Centre, University of Zielona Gora, Zielona Gora, Poland. Electronic address:

The relationship between high-density lipoproteins (HDLs), HDL-cholesterol (HDLC) and cancer incidence and mortality is controversial. Although most studies conducted so far, including well-designed prospective studies and meta-analyses, have revealed a significant inverse association between HDL-C levels and cancer risk, several confounding factors and opposite results showing either a direct or an inverse association between HDL-C levels and cancer mortality have hindered the possibility to derive definitive conclusions. Moreover, different lines of research also pointed out that this association might actually reflect an inverse causality, which would imply that low HDL-C levels merely represent an epiphenomenon of cancer-related inflammation and cancer cell renewal. Read More

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http://dx.doi.org/10.1016/j.plipres.2018.06.001DOI Listing
July 2018
46 Reads

Large-scale deletions of the gene in patients with hypoalphalipoproteinemia.

J Lipid Res 2018 08 4;59(8):1529-1535. Epub 2018 Jun 4.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London ON, Canada

Copy-number variations (CNVs) have been studied in the context of familial hypercholesterolemia but have not yet been evaluated in patients with extreme levels of HDL cholesterol. We evaluated targeted, next-generation sequencing data from patients with very low levels of HDL cholesterol (i.e. Read More

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http://dx.doi.org/10.1194/jlr.P086280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6071767PMC
August 2018
21 Reads

Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.

Arterioscler Thromb Vasc Biol 2018 07 31;38(7):1440-1453. Epub 2018 May 31.

From the Department of Pediatrics, Section of Molecular Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands (F.O., J.C.W., B.v.d.S., J.A.K.)

Objective: Studies into the role of LRP1 (low-density lipoprotein receptor-related protein 1) in human lipid metabolism are scarce. Although it is known that a common variant in (rs116133520) is significantly associated with HDL-C (high-density lipoprotein cholesterol), the mechanism underlying this observation is unclear. In this study, we set out to study the functional effects of 2 rare variants identified in subjects with extremely low HDL-C levels. Read More

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http://dx.doi.org/10.1161/ATVBAHA.117.310309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6023722PMC
July 2018
6 Reads

A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia.

J Clin Lipidol 2018 Jul - Aug;12(4):878-882. Epub 2018 Apr 21.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA. Electronic address:

Low high-density lipoprotein cholesterol (HDL-C) can be caused by several acquired secondary causes as well as primary genetic disorders. However, only a few conditions are associated with profoundly reduced levels below 10 mg/dL. We present an unusual case of a healthy man with severely decreased HDL-C because of a novel homozygous variant causing a Proline > Arginine amino acid change at position 1412 in the ATP-binding cassette transporter A1 gene. Read More

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http://dx.doi.org/10.1016/j.jacl.2018.04.005DOI Listing
October 2019
10 Reads

Hepatic Overexpression of Endothelial Lipase Lowers High-Density Lipoprotein but Maintains Reverse Cholesterol Transport in Mice: Role of Scavenger Receptor Class B Type I/ATP-Binding Cassette Transporter A1-Dependent Pathways.

Arterioscler Thromb Vasc Biol 2018 07 10;38(7):1454-1467. Epub 2018 May 10.

From the Division of Anti-Aging and Vascular Medicine, Department of Internal Medicine, National Defense Medical College, Tokorozawa, Japan (S.T., M.A., E.Y., T.N., K.N., M.S., M.I., H.U.-K., Y.T., M.Y., T.K., K.I.).

Objective: Reverse cholesterol transport (RCT) is a major mechanism by which HDL (high-density lipoprotein) protects against atherosclerosis. Endothelial lipase (EL) reportedly reduces HDL levels, which, in theory, would increase atherosclerosis. However, it remains unclear whether EL affects RCT in vivo. Read More

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http://dx.doi.org/10.1161/ATVBAHA.118.311056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039415PMC
July 2018
33 Reads

Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis.

Circulation 2018 09;138(10):1000-1007

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Italy (A.O., S.S., G.F., L.C.).

Background: Lecithin:cholesterol acyltransferase (LCAT) is the sole enzyme that esterifies cholesterol in plasma. Its role in the supposed protection from atherogenesis remains unclear because mutations in LCAT causing fish-eye disease (FED) or familial LCAT deficiency (FLD) have been reported to be associated with more or instead less carotid atherosclerosis, respectively. This discrepancy may be associated with the loss of cholesterol esterification on only apolipoprotein AI (FED) or on both apolipoprotein AI- and apolipoprotein B-containing lipoproteins (FLD), an aspect that has thus far not been investigated. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.034706DOI Listing
September 2018
50 Reads

Accelerated Atherogenicity in Tangier Disease.

J Atheroscler Thromb 2018 Oct 20;25(10):1076-1085. Epub 2018 Mar 20.

Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine.

We report a case of Tangier disease with Leriche syndrome and bleeding tendency. In this male patient, nasal hemorrhage had been observed frequently throughout childhood. At 46 years old, he experienced effort angina, and coronary angiography demonstrated 75% stenosis in the right coronary artery. Read More

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http://dx.doi.org/10.5551/jat.43257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193190PMC
October 2018
17 Reads

Structural determinants in ApoA-I amyloidogenic variants explain improved cholesterol metabolism despite low HDL levels.

Biochim Biophys Acta Mol Basis Dis 2017 12 6;1863(12):3038-3048. Epub 2017 Sep 6.

Department of Experimental Medical Science, Lund University, 221 84 Lund, Sweden. Electronic address:

Twenty Apolipoprotein A-I (ApoA-I) variants are responsible for a systemic hereditary amyloidosis in which protein fibrils can accumulate in different organs, leading to their failure. Several ApoA-I amyloidogenic mutations are also associated with hypoalphalipoproteinemia, low ApoA-I and high-density lipoprotein (HDL)-cholesterol plasma levels; however, subjects affected by ApoA-I-related amyloidosis do not show a higher risk of cardiovascular diseases (CVD). The structural features, the lipid binding properties and the functionality of four ApoA-I amyloidogenic variants were therefore inspected in order to clarify the paradox observed in the clinical phenotype of the affected subjects. Read More

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http://dx.doi.org/10.1016/j.bbadis.2017.09.001DOI Listing
December 2017
27 Reads

The usefulness of advanced lipid and oxidative stress testing for diagnosis and management of low HDL-cholesterol phenotype: A case report.

Clin Biochem 2017 Dec 23;50(18):1323-1325. Epub 2017 Jun 23.

Hôpitaux Universitaires Pitié-Salpêtrière-Charles Foix, Pôle de Biologie Médicale et Pathologie, Centre de Génétique Moléculaire et Chromosomique, Bd de l'Hôpital 47, Paris, France.

Objective: Plasma high-density lipoprotein cholesterol (HDL-C) level is a strong inverse predictor of cardiovascular disease (CVD) development. Tangier disease, a consequence of mutations in the ATP binding cassette transporter 1 (ABCA1) gene, is associated with very low HDL-C levels. Still, the relationship between Tangier disease and CVD is not always evident. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00099120173036
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http://dx.doi.org/10.1016/j.clinbiochem.2017.06.007DOI Listing
December 2017
35 Reads

Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.

Clin Sci (Lond) 2017 Aug 24;131(16):2095-2107. Epub 2017 Jul 24.

Unità di Medicina III, ASST Santi Paolo e Carlo and Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.

Loss-of-function mutations of the the ATP-binding cassette-1 () gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. These disorders are characterized by reduced plasma HDL-cholesterol (HDL-C) and altered efflux of cholesterol from cells. Previous studies in TD patients and murine models reported defects in platelet count, morphology, and function, but the issue is still controversial. Read More

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http://dx.doi.org/10.1042/CS20170195DOI Listing
August 2017
17 Reads

Peripheral polyneuropathy in severely obese patients with metabolic syndrome but without diabetes: Association with low HDL-cholesterol.

Rev Assoc Med Bras (1992) 2017 Apr;63(4):324-331

Health Sciences Graduate Program, Obstetrics and Gynecology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

Introduction:: The purpose of this study was to evaluate the prevalence of peripheral polyneuropathy (PPN) in subjects with grade II and III obesity (Ob-II,III) and metabolic syndrome (MetS) but without diabetes and to investigate possible associated factors.

Method:: A cross-sectional study was performed in non-diabetic Ob-II,III,MetS patients using the Michigan Neuropathy Screening Instrument (MNSI) to assess the presence of PPN.

Results:: A total of 24 of 218 non-diabetic Ob-II,III,MetS patients had PPN. Read More

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/1806-9282.63.04.324DOI Listing
April 2017
17 Reads

Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency.

J Lipid Res 2017 05 28;58(5):994-1001. Epub 2017 Mar 28.

Centro E. Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari Università degli Studi di Milano, Milano, Italy

The aim of this study was to evaluate the vasoprotective effects of HDL isolated from carriers of LCAT deficiency, which are characterized by a selective depletion of LpA-I:A-II particles and predominance of preβ migrating HDL. HDLs were isolated from LCAT-deficient carriers and tested in vitro for their capacity to promote NO production and to inhibit vascular cell adhesion molecule-1 (VCAM-1) expression in cultured endothelial cells. HDLs from carriers were more effective than control HDLs in promoting eNOS activation with a gene-dose-dependent effect ( = 0. Read More

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http://dx.doi.org/10.1194/jlr.P072371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408617PMC
May 2017
50 Reads

Low serum HDL-cholesterol concentrations in mid-life predict late-life cognitive impairment in type 2 diabetes: The Fremantle diabetes study.

J Diabetes Complications 2017 Jun 20;31(6):945-947. Epub 2017 Jan 20.

School of Medicine & Pharmacology, University of Western Australia.

In a study involving patients with type 2 diabetes assessed annually over 5years, serum HDL-cholesterol was the sole mid-life metabolic predictor of late-life cognitive impairment. Read More

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http://dx.doi.org/10.1016/j.jdiacomp.2016.12.009DOI Listing
June 2017
15 Reads

Methods for Monitoring ABCA1-Dependent Sterol Release.

Methods Mol Biol 2017 ;1583:257-273

Department of Biochemistry, Geisel School of Medicine at Dartmouth, 7200 Vail Bldg. Room 304, Hanover, NH, 03755, USA.

Releasing sterols to the extracellular milieu is an important part of sterol homeostasis in cells and in the body. ATP-binding cassette transporter A1 (ABCA1) plays an essential role in cellular phospholipid and sterol release to lipid-free or lipid-poor apolipoprotein A-I (apoA-I), the major apolipoprotein in high-density lipoprotein (HDL), and constitutes the first step in the formation of nascent HDL. Loss-of-function mutations in the ABCA1 gene lead to a rare disease known as Tangier disease that causes severe deficiency in plasma HDL level. Read More

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http://dx.doi.org/10.1007/978-1-4939-6875-6_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548429PMC
February 2018
10 Reads

Poor glycemic control in type 2 diabetes enhances functional and compositional alterations of small, dense HDL3c.

Biochim Biophys Acta Mol Cell Biol Lipids 2017 Feb 2;1862(2):188-195. Epub 2016 Nov 2.

INSERM UMR_S 1166, Faculte de Medecine Pitie-Salpetriere, 91 Bld de l'Hopital, 75013 Paris, France; University of Pierre and Marie Curie - Paris 6, Paris, France. Electronic address:

High-density lipoprotein (HDL) possesses multiple biological activities; small, dense HDL3c particles displaying distinct lipidomic composition exert potent antiatherogenic activities which can be compromised in dyslipidemic, hyperglycemic insulin-resistant states. However, it remains indeterminate (i) whether such functional HDL deficiency is related to altered HDL composition, and (ii) whether it originates from atherogenic dyslipidemia, dysglycemia, or both. In the present work we analyzed compositional characteristics of HDL subpopulations and functional activity of small, dense HDL3c particles in treatment-naïve patients with well-controlled (n=10) and poorly-controlled (n=8) type 2 diabetes (T2D) and in normolipidemic age- and sex-matched controls (n=11). Read More

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http://dx.doi.org/10.1016/j.bbalip.2016.10.014DOI Listing
February 2017
30 Reads

Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.

J Assoc Physicians India 2016 10;64(10):90-91

Professor, Department of Nephrology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu.

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive (AR) disease caused by mutation in the LCAT gene. LCAT enzyme esterifies cholesterol molecules in high-density lipoprotein(HDL) and low density-lipoprotein (LDL) particles. This enzyme deficiency is characterised by progressive corneal opacification, glomerulopathy, mild - moderate haemolytic anaemia and very low plasma levels of HDL. Read More

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October 2016
10 Reads

Association of apolipoprotein E polymorphism with plasma lipid disorders, independent of obesity-related traits in Vietnamese children.

Lipids Health Dis 2016 Oct 10;15(1):176. Epub 2016 Oct 10.

National Hospital of Otorhinolaryngology, 78 Giai Phong Road, Hanoi, Vietnam.

Background: The dyslipidemia associated with obesity plays a major role in the development of atherosclerosis and cardiovascular disease. Dyslipidemia in childhood can progress in adult stage. APOE is one of the most important genes that regulate plasma lipid transport and clearance. Read More

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http://dx.doi.org/10.1186/s12944-016-0349-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5057250PMC
October 2016
45 Reads

Diagnosis and treatment of high density lipoprotein deficiency.

Prog Cardiovasc Dis 2016 Sep - Oct;59(2):97-106. Epub 2016 Aug 24.

Cardiovascular Nutrition Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA; Boston Heart Diagnostics, Framingham, MA.

Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with marked deficiency of HDL-C (<20 mg/dL) in the absence of secondary causes are much less common (<1% of the population). These patients may have homozygous, compound heterozygous, or heterozygous defects involving the apolipoprotein (APO)AI, ABCA1, or lecithin:cholesterol acyl transferase genes, associated with apo A-I deficiency, apoA-I variants, Tangier disease , familial lecithin:cholesteryl ester acyltransferase deficiency, and fish eye disease. Read More

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http://dx.doi.org/10.1016/j.pcad.2016.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331615PMC
May 2017
17 Reads

Associations between hypo-HDL cholesterolemia and cardiometabolic risk factors in middle-aged men and women: Independence of habitual alcohol drinking, smoking and regular exercise.

Obes Res Clin Pract 2017 May - Jun;11(3):324-334. Epub 2016 Jul 5.

Division of Biostatistics, Hyogo College of Medicine, Nishinomiya, Hyogo 663-8501, Japan.

Objective: Hypo-HDL cholesterolemia is a potent cardiovascular risk factor, and HDL cholesterol level is influenced by lifestyles including alcohol drinking, smoking and regular exercise. The aim of this study was to clarify the relationships between hypo-HDL cholesterolemia and cardiovascular risk factors and to determine whether or not these relationships depend on the above-mentioned lifestyles.

Methods: The subjects were 3456 men and 2510 women (35-60 years of age) showing low HDL cholesterol levels (<40mg/dl for men and <50mg/dl for women) and their age-matched control subjects showing normal HDL cholesterol levels. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S1871403X163002
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http://dx.doi.org/10.1016/j.orcp.2016.04.007DOI Listing
March 2018
11 Reads

[Clinical Application of Methods for the Qualitative Evaluation of Lipid Abnormalities].

Authors:
Satoshi Hirayama

Rinsho Byori 2016 Feb;64(2):219-25

Recent lifestyle and social environment changes in Japan have been accompanied by increasing incidencerates of metabolic disorders, such as dyslipidemia and diabetes. Therefore, the rates of cardiovascular disease due to the progression of atherosclerosis are also increasing, and cardiovascular disease remains the leading cause of death in Japan. In particular, dyslipidemia, represented by hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia, is closely related to the onset and progression of atherosclerosis. Read More

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February 2016
9 Reads

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

J Clin Lipidol 2016 Mar-Apr;10(2):356-67. Epub 2015 Dec 23.

Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood Institute, NIH, Bethesda, MD, USA.

Background: Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable high-density lipoprotein cholesterol (HDL-C) levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, anemia, and renal disease.

Objective: To determine if infusions of recombinant human LCAT (rhLCAT) could reverse the anemia, halt progression of renal disease, and normalize HDL in FLD.

Methods: rhLCAT (ACP-501) was infused intravenously over 1 hour on 3 occasions in a dose optimization phase (0. Read More

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http://dx.doi.org/10.1016/j.jacl.2015.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826469PMC
December 2016
51 Reads

Lipoprotein X Causes Renal Disease in LCAT Deficiency.

PLoS One 2016 26;11(2):e0150083. Epub 2016 Feb 26.

Lipoprotein Metabolism Section, Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Human familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is characterized by low HDL, accumulation of an abnormal cholesterol-rich multilamellar particle called lipoprotein-X (LpX) in plasma, and renal disease. The aim of our study was to determine if LpX is nephrotoxic and to gain insight into the pathogenesis of FLD renal disease. We administered a synthetic LpX, nearly identical to endogenous LpX in its physical, chemical and biologic characteristics, to wild-type and Lcat-/- mice. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150083PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769176PMC
July 2016
62 Reads

Interactions of Six SNPs in ABCA1gene and Obesity in Low HDL-C Disease in Kazakh of China.

Int J Environ Res Public Health 2016 Jan 28;13(2):176. Epub 2016 Jan 28.

Department of Public Health and Key Laboratory of Xinjiang Endemic and Ethnic Diseases of the Ministry of Education, Shihezi University School of Medicine, Shihezi 832002, China.

Objective: To detect the interactions between six functional polymorphisms in ABCA1 and obesity in Kazakhs with low HDL-C levels.

Methods: A total of 204 patients with low HDL-C and 207 health control subjects, which were randomly selected from among 5692 adult Kazakhs, were matched for age and sex. We genotyped ABCA1 single nucleotide polymorphisms of rs2515602, rs3890182, rs2275542, rs2230806, rs1800976, and rs4149313. Read More

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http://dx.doi.org/10.3390/ijerph13020176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4772196PMC
January 2016
54 Reads

ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1.

J Thromb Haemost 2016 Mar 17;14(3):585-95. Epub 2016 Feb 17.

Inserm, U1048 et Université Toulouse 3, I2MC, Toulouse, France.

Unlabelled: ESSENTIALS: The role of ATP-binding cassette transporter 1 (ABCA1) in platelet functions is poorly characterized. We studied the impact of ABCA1 deficiency on platelet responses in a mouse model and two Tangier patients. ABCA1-deficient platelets exhibit reduced positive feedback loop mechanisms. Read More

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http://dx.doi.org/10.1111/jth.13247DOI Listing
March 2016
14 Reads

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla).

J Clin Lipidol 2015 Nov-Dec;9(6):837-846. Epub 2015 Sep 18.

Department of Internal Medicine, University of Genoa, Genoa, Italy. Electronic address:

Background: We describe a kindred with high-density lipoprotein (HDL) deficiency due to APOA1 gene mutation in which comorbidities affected the phenotypic expression of the disorder.

Methods: An overweight boy with hypertriglyceridemia (HTG) and HDL deficiency (HDL cholesterol 0.39 mmol/L, apoA-I 40 mg/dL) was investigated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S19332874150037
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http://dx.doi.org/10.1016/j.jacl.2015.09.001DOI Listing
September 2016
30 Reads

Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone.

Mol Cell Proteomics 2016 Mar 14;15(3):1083-93. Epub 2015 Dec 14.

From the ‡Department of Medicine, University of Washington, Seattle, WA, 98109;

Low levels of high-density lipoprotein cholesterol (HDL-C) and high triglyceride levels contribute to the excess rate of cardiovascular events seen in subjects with type 2 diabetes. Fenofibrate treatment partially reverses dyslipidemia in these subjects. However, a paradoxical marked reduction in HDL-C and HDL's major protein, apolipoprotein A-I, is a complication of fenofibrate in combination with rosiglitazone, an insulin-sensitizing agent. Read More

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http://dx.doi.org/10.1074/mcp.M115.054528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813690PMC
March 2016
36 Reads

Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.

Clin Chim Acta 2016 Jan 23;452:167-72. Epub 2015 Nov 23.

Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Japan. Electronic address:

Tangier disease, characterized by low or absent high-density lipoprotein (HDL), is a rare hereditary lipid storage disorder associated with frequent, but not obligatory, severe premature atherosclerosis due to disturbed reverse cholesterol transport from tissues. The reasons for the heterogeneity in atherogenicity in certain dyslipidemias have not been fully elucidated. Here, using high-performance liquid chromatography with a gel filtration column (HPLC-GFC), we have studied the lipoprotein profile of a 17-year old male patient with Tangier disease who to date has not developed manifest coronary atherosclerosis. Read More

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http://dx.doi.org/10.1016/j.cca.2015.11.021DOI Listing
January 2016
60 Reads
2.824 Impact Factor

[Nicotinic acid increases cellular transport of high density lipoprotein cholesterol in patients with hypoalphalipoproteinemia].

Rev Med Chil 2015 Sep;143(9):1097-104

Background: Plasma high density lipoproteins (HDL) are involved in reverse cholesterol transport mediated by the scavenger receptor class B type I (SR-BI). Nicotinic acid increases HDL cholesterol levels, even though its specific impact on SR-BI dependent-cellular cholesterol transport remains unknown.

Aim: To determine the effect of nicotinic acid on HDL particle functionality in cholesterol efflux and uptake mediated by SR-BI in cultured cells in hypoalphalipoproteinemic patients. Read More

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http://dx.doi.org/10.4067/S0034-98872015000900001DOI Listing
September 2015
31 Reads

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

Neuropediatrics 2015 Dec 19;46(6):420-3. Epub 2015 Oct 19.

Departments of Neurosurgery, Neurobiology and Genetics, School of Medicine, Yale University, New Haven, United States.

Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density lipoprotein (HDL) levels. Peripheral neuropathy can be seen in approximately 50% of patients with TD, which usually occurs after the age of 15 years, and is characterized by relapsing-remitting mono- or polyneuropathy or syringomyelia-like neuropathy. Herein, we report a 16-year-old female patient who was initially diagnosed with peripheral neuropathy at the age of 13 years. Read More

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http://dx.doi.org/10.1055/s-0035-1565275DOI Listing
December 2015
33 Reads

High-density lipoprotein deficiency in genetically modified mice deeply affects skin morphology: A structural and ultrastructural study.

Exp Cell Res 2015 Oct 1;338(1):105-12. Epub 2015 Aug 1.

Department of Pharmacological and Biomolecular Sciences, Laboratory of Pharmacology of Dyslipidemias and Atherosclerosis, Università degli Studi di Milano, Milan, Italy.

Cutaneous lipids, endogenously synthetized and transported by lipoproteins, play a pivotal role in maintaining skin barrier. An impairment of extracutaneous lipid trafficking leads to the development of xanthomas, mostly arising in hyperlipidemic patients, but also in subjects with high-density lipoprotein (HDL) deficiency. The aim of this work was to evaluate, in a genetically modified mouse model, lacking two protein components of HDL particles, apolipoprotein(apo)E and apoA-I, the effect of HDL deficiency on skin morphology. Read More

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http://dx.doi.org/10.1016/j.yexcr.2015.07.032DOI Listing
October 2015
39 Reads

The influence of metabolic factors for nonalcoholic Fatty liver disease in women.

Biomed Res Int 2015 20;2015:131528. Epub 2015 Apr 20.

Department of Internal Medicine, Healthcare Research Institute, Gangnam Healthcare Center, Seoul National University Hospital, Seoul, Republic of Korea.

Background/aims: Women after menopause have increased insulin resistance and visceral fat, which may increase the prevalence of nonalcoholic fatty liver disease (NAFLD). However, the pathogenesis of NAFLD in women has not been clearly defined. In this study, we aimed to determine the risk factors for NAFLD in women. Read More

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http://downloads.hindawi.com/journals/bmri/2015/131528.pdf
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http://www.hindawi.com/journals/bmri/2015/131528/
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http://dx.doi.org/10.1155/2015/131528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4417996PMC
February 2016
20 Reads

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

Atherosclerosis 2015 Jun 7;240(2):324-9. Epub 2015 Apr 7.

Division of Cardiovascular Medicine, Kanazawa University, Graduate School of Medicine, Kanazawa, Japan.

Objective: Molecular diagnosis for subjects with extremely low HDL-C through candidate-gene approaches requires huge effort. Whole exome-sequencing (WES) has already shown approximately ∼30% success in the diagnosis of Mendelian disorders. Moreover, novel in silico prediction software for the pathogenicity of novel missense variants named Combined Annotation Dependent Depletion (CADD) has recently been developed, enabling the objective integration of many diverse annotations into a single measure (C-score) for each variant. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00219150150022
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http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.003DOI Listing
June 2015
31 Reads

Metabolic syndrome parameters in adolescents may be determinants for the future periodontal diseases.

J Clin Periodontol 2015 Feb 20;42(2):105-12. Epub 2015 Jan 20.

Department of Preventive Medicine and Public Health, College of Medicine, Yeungnam University, Namgu, Daegu, Korea.

Aim: The prevalence of metabolic syndrome (MetS) increases even in adolescents. The evidence that MetS is associated with the periodontal diseases in adolescents has been understudied. Therefore, our aim was to assess the association between MetS parameters and gingivitis in adolescents. Read More

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http://dx.doi.org/10.1111/jcpe.12338DOI Listing
February 2015
39 Reads

Defective functionality of HDL particles in familial apoA-I deficiency: relevance of alterations in HDL lipidome and proteome.

J Lipid Res 2014 Dec 23;55(12):2509-20. Epub 2014 Oct 23.

National Institute for Health and Medical Research (INSERM), UMR-ICAN 1166, University of Pierre and Marie Curie - Paris 6, Pitié - Salpétrière University Hospital, ICAN, Paris, France.

To evaluate functional and compositional properties of HDL in subjects from a kindred of genetic apoA-I deficiency, two homozygotes and six heterozygotes, with a nonsense mutation at APOA1 codon -2, Q[-2]X, were recruited together with age- and sex-matched healthy controls (n = 11). Homozygotes displayed undetectable plasma levels of apoA-I and reduced levels of HDL-cholesterol (HDL-C) and apoC-III (5.4% and 42. Read More

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http://www.jlr.org/content/55/12/2509.full.pdf
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http://www.jlr.org/cgi/doi/10.1194/jlr.M051631
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http://dx.doi.org/10.1194/jlr.M051631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4242444PMC
December 2014
18 Reads

Classification of metabolic syndrome according to lipid alterations: analysis from the Mexican National Health and Nutrition Survey 2006.

BMC Public Health 2014 Oct 9;14:1056. Epub 2014 Oct 9.

Instituto Nacional de Salud Publica, Cuernavaca, Morelos, México.

Background: There are 16 possible Metabolic Syndrome (MS) combinations out of 5 conditions (glucose intolerance, low levels of high-density lipoprotein Cholesterol (HDL-C), high triglycerides, high blood pressure and abdominal obesity), when selecting those with at least three. Studies suggest that some combinations have different cardiovascular risk. However evaluation of all 16 combinations is complex and difficult to interpret. Read More

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http://dx.doi.org/10.1186/1471-2458-14-1056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288637PMC
October 2014
46 Reads
2 Citations
2.264 Impact Factor

Treatment of low HDL-C subjects with the CETP modulator dalcetrapib increases plasma campesterol only in those without ABCA1 and/or ApoA1 mutations.

Lipids 2014 Dec 4;49(12):1245-9. Epub 2014 Oct 4.

Metabolic and Vascular Diseases, F. Hoffmann-La Roche Ltd, Grenzacherstrasse 124, 4070, Basel, Switzerland,

We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1). Patients (n = 40) with FCH or FHA received dalcetrapib 600 mg or placebo in this 4-week, double-blind, crossover study. Lipids, apolipoproteins, cholesteryl ester transfer protein (CETP) activity and mass, and phytosterols were assessed. Read More

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http://link.springer.com/content/pdf/10.1007%2Fs11745-014-39
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http://link.springer.com/10.1007/s11745-014-3956-x
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http://dx.doi.org/10.1007/s11745-014-3956-xDOI Listing
December 2014
50 Reads

Role of HDL in those with diabetes.

Curr Cardiol Rep 2014 Sep;16(9):512

Low levels of high-density lipoprotein cholesterol (HDL-C) have been associated with an increased risk of coronary heart disease in prospective population studies and clinical trials of high-risk patients treated with a low to moderate intensity statin. As a result, therapeutic targets were developed to increase concentrations of HDL-C. Subsequently, clinical trials of high-intensity statins have not supported this previously well-established association. Read More

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September 2014
40 Reads