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    293 results match your criteria Low HDL Cholesterol Hypoalphalipoproteinemia

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    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

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

    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

    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

    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

    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

    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):837-46. 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

    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

    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

    [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

    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

    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

    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

    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

    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

    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

    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

    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

    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

    A review on lecithin:cholesterol acyltransferase deficiency.
    Clin Biochem 2015 May 27;48(7-8):472-5. Epub 2014 Aug 27.
    Department of Pathology & Laboratory Medicine, University of British Columbia, Vancouver, Canada. Electronic address:
    Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C). Genetic disorders of LCAT are associated with lipoprotein abnormalities including low levels of HDL-C and presence of lipoprotein X, and clinical features mainly corneal opacities, changes in erythrocyte morphology and renal failure. Recombinant LCAT is being developed for the treatment of patients with LCAT deficiency. Read More

    Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease.
    J Intern Med 2015 May 1;277(5):552-61. Epub 2014 Aug 1.
    Center E. Grossi Paoletti, Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy.
    Objectives: It has been suggested that a low plasma high-density lipoprotein cholesterol (HDL-C) level contributes to the high cardiovascular disease risk of patients with chronic kidney disease (CKD), especially those undergoing haemodialysis (HD). The present study was conducted to gain further understanding of the mechanism(s) responsible for the low HDL-C levels in patients with CKD and to separate the impact of HD from that of the underlying CKD.

    Methods: Plasma lipids and lipoproteins, HDL subclasses and various cholesterol esterification parameters were measured in a total of 248 patients with CKD, 198 of whom were undergoing HD treatment and 40 healthy subjects. Read More

    Early senescence in heterozygous ABCA1 mutation skin fibroblasts: a gene dosage effect beyond HDL deficiency?
    Biochem Biophys Res Commun 2014 May 26;447(2):231-6. Epub 2014 Mar 26.
    Fondazione Toscana Gabriele Monasterio, Via Moruzzi n. 1, Pisa, Italy. Electronic address:
    Purpose: Homozygous ABCA1 gene mutation causes Tangier disease (TD). The effects reported in heterozygous state regard plasma HDL, cell cholesterol efflux and coronary artery disease. We investigated whether in vitro replicative skin fibroblast senescence shown in TD proband (Hom), his father (Het), and in a healthy control might be induced in a "gene-dosage way". Read More

    A kindred with fish eye disease, corneal opacities, marked high-density lipoprotein deficiency, and statin therapy.
    J Clin Lipidol 2014 Mar-Apr;8(2):223-30. Epub 2013 Dec 11.
    Boston Heart Diagnostics, Framingham, MA, USA; Lipid Metabolism Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA, USA.
    A kindred affected with fish eye disease (FED) from Oklahoma is reported. Two probands with corneal opacification had mean levels of high-density lipoprotein (HDL) cholesterol (C), apolipoprotein (apo) A-I, and apoA-I in very large alpha-1 HDL particles that were 9%, 17%, and 5% of normal, whereas their parents and 1 sibling had values that were 61%, 77%, and 72% of normal. The probands had no detectable lipoprotein-X, and had mean low-density lipoprotein cholesterol (LDL-C) and triglyceride levels that were elevated. Read More

    Impact of hypoalphalipoproteinemia on quality of life in Taiwanese women with central obesity.
    Qual Life Res 2014 Jun 10;23(5):1619-27. Epub 2013 Dec 10.
    Branch of Linsen and Chinese Medicine, Taipei City Hospital, Taipei, Taiwan.
    Purpose: To investigate the relationship between health-related quality of life (HRQoL) and different cutoff value of low level of high-density lipoprotein cholesterol (HDL-C) in Taiwanese women with different definition of obesity.

    Methods: Prospective observational study in women with central obesity was conducted in Taipei City Hospital. A total of 572 women were screened at our clinic, and 227 of them with a body mass index ≧27 kg/m2 defined by the Department of Health in Taiwan and weight circumference ≧80 cm were eligible for the study. Read More

    Clustering and combining pattern of metabolic syndrome components in a rural Brazilian adult population.
    Sao Paulo Med J 2013 ;131(4):213-9
    Department of Maternal and Child Nursing and Public Health, School of Nursing, Universidade Federal de Minas Gerais, Belo HorizonteMinas Gerais, Brazil.
    CONTEXT AND OBJECTIVE Metabolic syndrome is characterized by clustering of cardiovascular risk factors such as obesity, dyslipidemia, insulin resistance, hyperinsulinemia, glucose intolerance and arterial hypertension. The aim of this study was to estimate the probability of clustering and the combination pattern of three or more metabolic syndrome components in a rural Brazilian adult population. DESIGN AND SETTING This was a cross-sectional study conducted in two rural communities located in the Jequitinhonha Valley, Minas Gerais, Brazil. Read More

    Relationship of apolipoproteins A-1 and B, and lipoprotein(a) to cardiovascular outcomes: the AIM-HIGH trial (Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglyceride and Impact on Global Health Outcomes).
    J Am Coll Cardiol 2013 Oct 21;62(17):1575-9. Epub 2013 Aug 21.
    Northwest Lipid Metabolism and Diabetes Research Laboratories, Department of Medicine, University of Washington, Seattle, Washington.
    Objectives: This study sought to examine the relationship between baseline and on-study apolipoproteins (apo) A-1 and B and lipoprotein(a) [Lp(a)] levels and the development of subsequent cardiovascular (CV) events in the AIM-HIGH (Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglyceride and Impact on Global Health Outcomes) trial.

    Background: Niacin has been reported to lower apoB and Lp(a) and to raise apoA-1.

    Methods: Individuals with CV disease and low baseline levels of high-density lipoprotein cholesterol were randomized to simvastatin plus placebo or simvastatin, plus extended-release niacin ([ERN], 1,500 to 2,000 mg/day), with ezetimibe added as needed, in both groups, to maintain an on-treatment low-density lipoprotein cholesterol in the range of 40 to 80 mg/dl. Read More

    Effect of tomato consumption on high-density lipoprotein cholesterol level: a randomized, single-blinded, controlled clinical trial.
    Diabetes Metab Syndr Obes 2013 26;6:263-73. Epub 2013 Jul 26.
    Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
    Introduction: Epidemiologic evidence suggests that tomato-based products could reduce the risk of cardiovascular diseases. One of the main cardiovascular risk factors is low levels of high-density lipoprotein cholesterol (HDL-C). This study aimed to prospectively evaluate the effect of tomato consumption on HDL-C levels. Read More

    Nephrotic syndrome caused by immune-mediated acquired LCAT deficiency.
    J Am Soc Nephrol 2013 Jul 25;24(8):1305-12. Epub 2013 Apr 25.
    Departments of Medicine and Clinical Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
    Lecithin-cholesterol acyltransferase (LCAT) is an enzyme involved in maintaining cholesterol homeostasis. In familial LCAT deficiency (FLD), abnormal lipid deposition causes renal injury and nephrotic syndrome, frequently progressing to ESRD. Here, we describe a 63-year-old Japanese woman with no family history of renal disease who presented with nephrotic syndrome. Read More

    Cardiometabolic risk factors and quality of life in severely obese children and adolescents in The Netherlands.
    BMC Pediatr 2013 Apr 22;13:62. Epub 2013 Apr 22.
    Department of Health Sciences and the EMGO Institute for Health and Care Research, VU University Amsterdam, Amsterdam, The Netherlands.
    Background: The prevalence of severe obesity in children and adolescents is increasing. However, little is known about cardiometabolic risk factors and quality of life of children with severe obesity.Therefore, the aim of this study was to assess the demographic characteristics and the prevalence of cardiometabolic risk factors and quality of life in severely obese children and adolescents undergoing intensive inpatient treatment for obesity. Read More

    Enhanced lipid peroxidation and platelet activation as potential contributors to increased cardiovascular risk in the low-HDL phenotype.
    J Am Heart Assoc 2013 Apr 4;2(2):e000063. Epub 2013 Apr 4.
    Department of Internal Medicine and Center of Excellence on Aging, G. d'Annunzio University of Chieti, Chieti, Italy.
    Background: Low high-density lipoprotein (HDL) levels are major predictors of cardiovascular (CV) events, even in patients on statin treatment with low-density lipoprotein (LDL) at target. In animal models HDLs protect LDL from oxidation and blunt platelet activation. Our study aimed to examine whether HDL levels are related to in vivo oxidative stress and platelet activation, as determinants of atherothrombosis. Read More

    [Metabolic syndrome reversion by polyunsaturated fatty acids ingestion].
    Med Clin (Barc) 2013 Dec 21;141(12):513-8. Epub 2013 Mar 21.
    Unidad de Investigación y Desarrollo en Alimentos, Instituto Tecnológico de Veracruz, Veracruz, México. Electronic address:
    Background And Objective: Metabolic syndrome (MS) frequency is growing and diet has an important influence on its evolution. Our objective was to study the effect of 3 sources of polyunsaturated fatty acids on MS parameters in humans.

    Patients And Method: The MS was diagnosed according to the International Diabetes Federation. Read More

    High density lipoprotein as a source of cholesterol for adrenal steroidogenesis: a study in individuals with low plasma HDL-C.
    J Lipid Res 2013 Jun 19;54(6):1698-704. Epub 2013 Mar 19.
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
    Few studies have addressed the delivery of lipoprotein-derived cholesterol to the adrenals for steroid production in humans. While there is evidence against a role for low-density lipoprotein (LDL), it is unresolved whether high density lipoprotein (HDL) contributes to adrenal steroidogenesis. To study this, steroid hormone profiles in urine were assessed in male subjects suffering from functional mutations in ATP binding cassette transporter A1 (ABCA1) (n = 24), lecithin:cholesterol acyltransferase (LCAT) (n = 40), as well as in 11 subjects with low HDL cholesterol (HDL-C) without ABCA1/LCAT mutations. Read More

    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    J Med Genet 2013 May 15;50(5):298-308. Epub 2013 Mar 15.
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Gonda Center, Room 6335B, 695 Charles E. Young Drive South, Los Angeles, CA 90095-7088, USA.
    Background: The Mexican population and others with Amerindian heritage exhibit a substantial predisposition to dyslipidemias and coronary heart disease. Yet, these populations remain underinvestigated by genomic studies, and to date, no genome-wide association (GWA) studies have been reported for lipids in these rapidly expanding populations.

    Methods And Findings: We performed a two-stage GWA study for hypertriglyceridemia and low high-density lipoprotein cholesterol (HDL-C) in Mexicans (n=4361), and identified a novel Mexican-specific genome-wide significant locus for serum triglycerides (TGs) near the Niemann-Pick type C1 protein gene (p=2. Read More

    HDL deficiency due to a new insertion mutation (ApoA-INashua) and review of the literature.
    J Clin Lipidol 2013 Mar-Apr;7(2):169-73. Epub 2012 Nov 17.
    Division of Endocrinology and Metabolism, Tufts Medical Center, Boston, MA, USA.
    A 61-year-old white man of European ancestry with significant coronary heart disease since age 42 years and marked high-density lipoprotein (HDL) deficiency (HDL cholesterol 1 mg/dL) was evaluated. His fasting low-density lipoprotein cholesterol level was 42 mg/dL, and his triglycerides were 417 mg/dL on therapy with rosuvastatin 40 mg/day, ezetimibe 10 mg/day, fenofibrate 145 mg/day, and extended-release niacin 2 g/day. Further analysis of his plasma revealed an apolipoprotein (apo) A-I level of 23. Read More

    Familial LCAT deficiency in a child with nephrotic syndrome.
    Clin Nephrol 2014 Sep;82(3):211-4
    Background: Lecitin cholesterol acyltransferase (LCAT) deficiency comprises a group of rare disorders related to HDL metabolism. These disorders are characterized by ophthalmologic, hematologic, and renal findings. Case diagnosis/treatment: A 15-year-old female who presented with nephrotic syndrome and hypertension was diagnosed with LCAT deficiency by renal biopsy and LCAT enzyme activity. Read More

    Different types of alcoholic beverages and incidence of metabolic syndrome and its components in a Mediterranean cohort.
    Clin Nutr 2013 Oct 12;32(5):797-804. Epub 2012 Dec 12.
    Department of Preventive Medicine and Public Health, School of Medicine, University of Navarra, C/Irunlarrea, 1, 31008 Pamplona, Navarra, Spain; Department of Cardiology and Cardiac Surgery, University Clinic of Navarra, Avenida Pio XII, 36, 31008 Pamplona, Navarra, Spain.
    Background & Aims: We prospectively assessed the association between alcohol consumption and the incidence of Metabolic Syndrome (MS) in a Mediterranean cohort.

    Methods: We included 8103 (mean age: 35.4 years) University graduates free of any MS criteria and followed-up during ≥6 years. Read More

    [Hypertriglyceridemia and low HDL cholesterol as high impact factors for metabolic syndrome diagnosis in apparently healthy adults].
    Rev Med Inst Mex Seguro Soc 2012 May-Jun;50(3):301-6
    Universidad Autónoma de Chiapas, Tapachula, Chiapas, Mexico.
    Objective: to determine the impact of lipid serum abnormalities and the prevalence of metabolic syndrome (MS) in healthy adults.

    Methods: a cross-sectional, prospective and observational study in apparently healthy adults aged 20 to 60 years who had at least three of the following criteria: abdominal obesity (waist circumference > 102 cm in men and > 88 cm in women), triglycerides ≥ 150 mg/dL, HDL cholesterol < 40 mg/dL in men and < 50 mg/dL in women, blood pressure ≥ 130/85 mmHg and fasting glucose ≥ 110 mg/dL).

    Results: the prevalence of MS was 20 %, being higher in women (67. Read More

    Patients with low HDL-cholesterol caused by mutations in LCAT have increased arterial stiffness.
    Atherosclerosis 2012 Dec 27;225(2):481-5. Epub 2012 Sep 27.
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Objective: Carriers of a functional mutation in LCAT, encoding lecithin:cholesterol acyl transferase, are exposed to lifelong low high-density lipoprotein cholesterol (HDL-c) levels. We investigated whether LCAT mutation carriers have increased arterial stiffness as a marker of cardiovascular disease and whether arterial stiffness was associated with carotid wall thickening.

    Methods: We assessed 45 carriers of LCAT mutations (mean age ± SD 46 ± 13 yrs) and 45 age-matched controls. Read More

    Approach to the patient with extremely low HDL-cholesterol.
    J Clin Endocrinol Metab 2012 Oct;97(10):3399-407
    Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, 11-125 Translational Research Center, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
    Patients with extremely low high-density lipoprotein-cholesterol (HDL-C) pose distinct challenges to clinical diagnosis and management. Confirmation of HDL-C levels below 20 mg/dl in the absence of severe hypertriglyceridemia should be followed by evaluation for secondary causes, such as androgen use, malignancy, and primary monogenic disorders, namely, apolipoprotein A-I mutations, Tangier disease, and lecithin-cholesterol acyltransferase deficiency. Global cardiovascular risk assessment is a critical component of comprehensive evaluation, although the association between extremely low HDL-C levels and atherosclerosis remains unclear. Read More

    Beyond low-density lipoprotein cholesterol: why, who and when.
    Singapore Med J 2012 Sep;53(9):566-8; quiz 569
    SingHealth Polyclinics - Sengkang, 2 Sengkang Square, #01-06, Sengkang Community Hub, Singapore.
    Cardiovascular disease due to atherosclerosis is a leading cause of death around the world, including Singapore. Current treatment strategies primarily target low-density lipoprotein (LDL) cholesterol levels. Low levels of high-density lipoprotein (HDL) cholesterol and high triglyceride (TG) levels have been shown to increase the risk of coronary heart disease, but the clinical benefits of raising low HDL cholesterol have only been proven in a limited number of studies. Read More

    Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
    Mol Genet Metab 2012 Nov 18;107(3):534-41. Epub 2012 Aug 18.
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, Modena, Italy.
    The objective of the study was the characterization of ABCA1 gene mutations in 10 patients with extremely low HDL-cholesterol. Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). Three of them were homozygous for novel mutations either in intron (c. Read More

    Tangier disease: epidemiology, pathophysiology, and management.
    Am J Cardiovasc Drugs 2012 Oct;12(5):303-11
    Institute of Clinical Physiology, National Council of Research, Pisa, Italy.
    Tangier disease is one of the most severe forms of familial high-density lipoprotein (HDL) deficiency. Since its discovery it has been diagnosed in about 100 patients and is characterized by severe plasma deficiency or absence of HDL, apolipoprotein A-I (apoA-I, the major HDL apolipoprotein) and by accumulation of cholesteryl esters in many tissues throughout the body. The biochemical signs of this condition are plasma HDL concentrations less than 5 mg/dL, low total plasma cholesterol (below 150 mg/dL), and normal or high plasma triglycerides. Read More

    Clinical and histopathological features of a suspected case of fish-eye disease.
    Jpn J Ophthalmol 2012 Sep 2;56(5):453-7. Epub 2012 Aug 2.
    Department of Ophthalmology, Kansai Medical University, 2-3-1 Shinmachi, Hirakata, Osaka 573-1191, Japan.
    Purpose: To report the clinical and histopathological features of a suspected case of fish-eye disease.

    Case: A 57-year-old man presented with blurred vision. The best corrected visual acuity was 0. Read More

    Statins and beyond: concurrent strategies for prevention of cardiovascular disease in patients with type 2 diabetes.
    Diab Vasc Dis Res 2013 Mar 20;10(2):99-114. Epub 2012 Jun 20.
    Munich Diabetes Research Group at the Munich Helmholtz Centre, Germany.
    Diabetes is a significant risk factor for the development of cardiovascular disease (CVD), particularly in the presence of high blood pressure, poor glycaemic control and high total cholesterol. While efforts to control blood pressure or blood glucose beyond levels considered 'normal' in patients with diabetes have not produced the expected reduction in CVD, treatment with statins to reduce levels of low-density lipoprotein cholesterol (LDL-C) has been much more successful. However, many patients with diabetes who receive statins (even at high doses) remain at significant residual risk of CVD due to the presence of atherogenic dyslipidaemia. Read More

    Very low levels of HDL cholesterol and atherosclerosis, a variable relationship--a review of LCAT deficiency.
    Vasc Health Risk Manag 2012 5;8:357-61. Epub 2012 Jun 5.
    Centre d'Exploration, de Prévention et de Traitement de l'Athérosclérose, Hôpital Cardiologique, CHU Bordeaux, Université Bordeaux Segalen, Bordeaux, France.
    A number of epidemiological and clinical studies have demonstrated that plasma high-density lipoprotein (HDL) level is a strong inverse predictor of cardiovascular events. HDL is believed to retard the formation of atherosclerotic lesions by removing excess cholesterol from cells and preventing endothelial dysfunction. Lecithin cholesterol acyltransferase (LCAT) plays a central role in the formation and maturation of HDL, and in the intravascular stage of reverse cholesterol transport: a major mechanism by which HDL modulates the development and progression of atherosclerosis. Read More

    Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
    J Clin Lipidol 2012 May-Jun;6(3):244-50. Epub 2012 Jan 28.
    Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, via Balzaretti 9, 20133 Milano, Italy.
    Background: Lecithin:cholesterol acyltransferase (LCAT) is responsible for cholesterol esterification in plasma. Mutations of LCAT gene cause familial LCAT deficiency, a metabolic disorder characterized by hypoalphalipoproteinemia. Apolipoprotein B (apoB) is the main protein component of very-low-density lipoproteins and low-density lipoprotein (LDL). Read More

    Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.
    Atherosclerosis 2012 Jun 28;222(2):299-306. Epub 2011 Nov 28.
    Center E. Grossi Paoletti, Department of Pharmacological Sciences, Università degli Studi di Milano, Via Balzaretti 9, 20133 Milano, Italy.
    The lecithin:cholesterol acyltransferase (LCAT) enzyme is responsible for the synthesis of cholesteryl esters in human plasma and plays a critical role in high density lipoprotein (HDL) metabolism. Genetic LCAT deficiency is a rare metabolic disorder characterized by low HDL cholesterol levels. This paper reviews the genetic and biochemical features of LCAT deficiency, highlighting the absence of enhanced preclinical atherosclerosis in carriers, despite the remarkably low HDL cholesterol. Read More

    Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.
    Circ Cardiovasc Genet 2012 Feb 7;5(1):42-50. Epub 2011 Nov 7.
    Department of Internal Medicine, University of Genoa, Viale Benedetto XV 6, Genoa, Italy.
    Background: Angiopoietin-like protein 3 (ANGPTL3) affects lipid metabolism by inhibiting the activity of lipoprotein and endothelial lipases. Angptl3 knockout mice have marked hypolipidemia, and heterozygous carriers of ANGPLT3, loss-of-function mutations were found among individuals in the lowest quartile of plasma triglycerides in population studies. Recently, 4 related individuals with primary hypolipidemia were found to be compound heterozygotes for ANGPTL3 loss-of-function mutations. Read More

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