摘要
This report presents a case of a male infant, aged 32 days, who was admitted to the hospital due to 2 days of bloody stools and 1 day of fever. Upon admission, venous blood samples were collected, which appeared pink. Blood biochemistry tests revealed elevated levels of triglycerides and total cholesterol. The familial whole genome sequencing revealed a compound heterozygous variation in the LPL gene, with one variation inherited from the father and the other from the mother. The patient was diagnosed with lipoprotein lipase deficiency-related hyperlipoproteinemia. Acute symptoms including bloody stools, fever, and bloody ascites led to the consideration of acute pancreatitis, and the treatment involved fasting, plasma exchange, and whole blood exchange. Following the definitive diagnosis based on the genetic results, the patient was given a low-fat diet and received treatment with fat-soluble vitamins and trace elements, as well as adjustments to the feeding plan. After a 4-week hospitalization, the patient's condition improved and he was discharged. Follow-up showed a decrease in triglycerides and total cholesterol levels. At the age of 1 year, the patient's growth and psychomotor development were normal. This article emphasizes the multidisciplinary diagnosis and treatment of familial hyperlipoproteinemia presenting with symptoms suggestive of acute pancreatitis, including bloody ascites, in the neonatal period.
Subject(s)
Humans , Infant , Male , Acute Disease , Ascites , Cholesterol , Hyperlipoproteinemia Type I/genetics , Hyperlipoproteinemias , Lipoprotein Lipase/genetics , Pancreatitis , Triglycerides摘要
Abstract Objective: To analyze if there is an association between the presence of polymorphisms in the LPL gene (rs320, rs285 and rs328) with development of acute ischemic stroke in Colombian population. Methods: In a case control design, 133 acute ischemic stroke patients (clinical diagnosis and x-ray CT) and 269 subjects without stroke as controls were studied. PCR -RFLP technique was used to detect rs320, rs285 and rs328 polymorphisms in the LPL gene. Results: In the present research was not found any association between any of the LPL gene polymorphism and acute ischemic stroke in the population studied; the allele and genotypic frequencies of the studied polymorphisms were similar in cases and controls and followed the Hardy-Weinberg equilibrium. The study was approved by the IRB and each subject signed the informed consent. Conclusion: LPL gene polymorphisms are not genetic markers for the development of stroke in the Colombian sample used.
Resumen Objetivo: Determinar la asociación entre los polimorfismos en el gen LPL (rs320, rs285 y rs328), y la enfermedad cerebrovascular isquémica aguda en una muestra de población colombiana. Métodos: A partir de un diseño de casos y controles, se estudiaron 133 casos con enfermedad cerebrovascular isquémica aguda (diagnóstico clínico y TAC), y 269 controles sin enfermedad cerebrovascular. Se examinó los polimorfismos rs320, rs285 y rs328 en el gen LPL con la técnica PCR-RFLP. Resultados: En el presente estudio no se encontró asociación entre rs320, rs285 y rs328 con la enfermedad cerebrovascular isquémica aguda en la muestra analizada; siendo las frecuencias alélicas y genotípicas de los polimorfismos similares entre casos y controles, y se encontró en equilibrio de Hardy-Weinberg. El estudio fue avalado por el comité de ética de las instituciones vinculadas y todos los pacientes dieron consentimiento informado. Conclusión: Los polimorfismos en el gen de la LPL no tienen utilidad como marcadores genéticos asociados con la presentación de la enfermedad cerebrovascular isquémica aguda en la muestra analizada.
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Genetic Markers , Brain Ischemia/genetics , Stroke/genetics , Lipoprotein Lipase/genetics , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Case-Control Studies , Polymerase Chain Reaction , Colombia , Alleles , Genotype摘要
CONTEXT AND OBJECTIVE: Interactions between body mass index (BMI), birth weight and risk parameters may contribute to diseases rather than the individual effects of each factor. However this hypothesis needs to be confirmed. This study aimed to determine to what extent variants of lipoprotein lipase (LPL) might interact with birth weight or body weight in determining the lipid profile concentrations in children and adolescents. DESIGN AND SETTING: Substudy of the third survey of a national surveillance system (CASPIAN-III Study) in Iran. METHODS: Whole blood samples (kept frozen at -70 °C) were randomly selected from 750 students aged 10-18 years. Real-time polymerase chain reaction (PCR) and high-resolution melt analysis were performed to assess S447X (rs328), HindIII (rs320) and D9N (rs1801177) polymorphisms. RESULTS: The AG/GG genotype in D9N polymorphism was associated with higher LDL-C (low-density lipoprotein cholesterol) and lower HDL-C (high-density lipoprotein cholesterol) concentration. Significant interactions were found for D9N polymorphism and birth weight in association with plasma HDL-C concentration, and also for D9N polymorphism and BMI in association with plasma triglyceride (TG) and HDL-C levels. HindIII polymorphism had significant association with birth weight for HDL-C concentration, and with BMI for TG and HDL-C levels. Significant interactions were found for S447X polymorphism and BMI in association with plasma TG and HDL-C concentrations. CONCLUSION: We found significant interactive effects from LPL polymorphisms and birth weight on HDL-C concentration, and also effects from LPL polymorphisms and BMI on TG and HDL-C concentrations.
RESUMO CONTEXTO E OBJETIVO: Interações entre índice de massa corporal (IMC), peso ao nascer e parâmetros de risco podem contribuir para doenças, em vez de efeitos individuais de cada fator. No entanto, essa hipótese precisa de confirmação. Este estudo visou determinar o quanto variantes de lipoproteína lipase (LPL) podem interagir com peso de nascimento ou peso corporal na determinação das concentrações do perfil lipídico em crianças e adolescentes. DESENHO E LOCAL: Sub-estudo da terceira pesquisa de sistema nacional de vigilância (Estudo CASPIAN-III) no Irã. MÉTODOS: Foram selecionadas aleatoriamente amostras de sangue total (mantidas congeladas a -70 °C) de 750 estudantes com idades entre 10-18 anos. Reação de polimerase em cadeia (PCR) em tempo real e análise de fusão de alta resolução foram realizados para avaliar polimorfismo de S447X (rs328), HindIII (rs320) e D9N (rs1801177). RESULTADOS: Genótipo AG/GG em polimorfismo D9N foi associado com concentração maior de LDL-C (colesterol do tipo lipoproteína de baixa densidade) e menor de HDL-C (colesterol do tipo lipoproteína de alta densidade). Interações significativas foram encontradas para polimorfismo D9N e peso ao nascer em associação com concentração plasmática de HDL-C, bem como para polimorfismo D9N e IMC em associação com níveis plasmáticos de triglicérides (TG) e HDL-C. Polimorfismo HindIII teve associação significativa com peso de nascimento para concentração de HDL-C, e com IMC para níveis de TG e HDL-C. Interações significativas foram encontradas para polimorfismo S447X e IMC em associação com concentrações plasmáticas de TG e HDL-C. CONCLUSÃO: Encontramos efeitos interativos significativos de polimorfismo LPL e peso de nascimento sobre concentração de HDL-C, bem como efeitos de polimorfismos LPL e IMC sobre concentrações de TG e HDL-C.
Subject(s)
Humans , Male , Female , Child , Adolescent , Polymorphism, Genetic , Birth Weight/physiology , Body Mass Index , Lipids/blood , Lipoprotein Lipase/genetics , Triglycerides/blood , Genotype , Lipoprotein Lipase/blood , Lipoproteins, HDL , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Obesity/blood摘要
El aumento en los valores de los lípidos sanguíneos, constituye un importante factor de riesgo cardiovascular. La lipoproteína lipasa (LPL) juega un papel importante en el metabolismo lipoproteico. Factores metabólicos y genéticos pueden influir en la función de la LPL. La variante S447X de la LPL se ha asociado con cambios en el perfil lipídico en diferentes poblaciones. El objetivo de esta investigación fue analizar la relación entre la variante S447X del gen de la LPL y lípidos plasmáticos de individuos del Estado Zulia, Venezuela. Se estudiaron 75 individuos entre 20 y 60 años, 34 hombres y 41 mujeres. A cada individuo se le realizó una historia clínica con antecedentes familiares, características antropométricas, estado nutricional y pruebas bioquímicas. Para el estudio molecular, se extrajo el ADN genómico, se utilizó la reacción en cadena de la polimerasa (RCP) seguida de digestión enzimática para polimorfismos de longitud de fragmentos de restricción utilizando la enzima Hinf I. Los individuos estudiados presentaron niveles normales de glicemia, triglicéridos, colesterol total, lipoproteínas de baja densidad (C-LDL) y niveles ligeramente disminuidos de las lipoproteínas de alta densidad (C-HDL). La distribución genotípica dela variante S447X del gen LPL fue 90,6% para el genotipo homocigoto 447SS y 9,4% para el genotipo heterocigoto 447SX; no se identificó el genotipo 447XX. La población se ajustó al equilibrio genético de Hardy Weinberg. No se encontró relación entre el polimorfismo S447X del gen LPL y los valores lipídicos plasmáticos.
The increase in lipid plasma values is an important cardiovascular risk factor. Lipoprotein lipase (LPL) plays an important role in the lipoprotein metabolism and metabolic and genetic factors may influence its levels and functions. The S447X variant of the lipoprotein lipase gene is associated with changes in plasma lipids in different populations. The objective of this research was to analyze the S447X variant of the LPL gene and its relation with plasma lipids of individuals in Zulia state, Venezuela. With this purpose, we studied 75 individuals (34 men and 41 women) between 20 and 60 years of age. Each subject had a medical history which included family history, anthropometric characteristics, nutritional status evaluation and biochemical tests. Genomic DNA was extracted for the molecular study and the polymerase chain reaction was used, followed by enzyme digestion, for restriction fragments length polymorphisms using the Hinf I enzyme. The individuals studied had normal levels of blood glucose, triglycerides, total cholesterol and low density lipoproteins (LDL-C) and slightly decreased levels of high density lipoproteins (HDL-C). The genotypic distribution of the LPL gene S447X variant in the studied population was 90.6% for the homozygous genotype SS447 and 9.4% for the heterozygote SX447. The genotype 447XX was not identified. The population was found in Hardy Weinberg genetic equilibrium. No association between the S447X polymorphism of lipoprotein lipase gene and plasma lipids was observed.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Lipids/blood , Lipoprotein Lipase/genetics , Polymorphism, Single Nucleotide , Body Mass Index , Blood Glucose/analysis , DNA Mutational Analysis , Genotype , Insulin/analysis , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Venezuela摘要
We report the case of a patient who experienced extreme recurrent gestational hyperlipidemia. She was diagnosed with partial lipoprotein lipase (LPL) deficiency but without an associated LPL gene mutation in the presence of the apolipoprotein E3/2 genotype. This is the first reported case of extreme gestational hyperlipidemia with a partial LPL deficiency in the absence of an LPL gene mutation and the apolipoprotein E 3/2 genotype. She was managed with strict dietary control and medicated with omega-3 acid ethyl esters. A patient with extreme hyperlipidemia that is limited to the gestational period should be considered partially LPL-deficient. Extreme instances of hyperlipidemia increase the risk of acute pancreatitis, and the effect of parturition on declining plasma lipid levels can be immediate and dramatic. Therefore, decisions regarding the timing and route of delivery with extreme gestational hyperlipidemia are critical and should be made carefully.
Subject(s)
Adult , Female , Humans , Pregnancy , Acute Disease , Apolipoprotein E2/genetics , Apolipoprotein E3/genetics , Biomarkers/blood , Combined Modality Therapy , Diet, Fat-Restricted , Fatty Acids, Omega-3/therapeutic use , Fluid Therapy , Genetic Predisposition to Disease , Hyperlipoproteinemia Type I/blood , Lipids/blood , Lipoprotein Lipase/genetics , Pancreatitis/diagnosis , Parenteral Nutrition, Total , Phenotype , Pregnancy Complications/blood , Recurrence , Tomography, X-Ray Computed , Treatment Outcome摘要
Lipoprotein lipase [LPL] controls triacylglycerol partitioning between adipose tissues and muscles, so it is important enzyme for fattening of animals.The present work was planned to clarify the use of polymerase chain reaction [PCR] for detection of LPL mRNA expression in different tissues representing internal organs of male Friesian cows. The obtained results revealed that, LPL mRNA was expressed in all tested tissues, and the highest expression was encountered in testis [1.03]. The expression in heart, liver, kidney, adrenal gland, spleen were 0.92, 0.77, 0.76, 0.73, and 0.70 respectively.The lowest expression was found in adipose tissue [0.64] It could be concluded from the present study that, expression of LPL mRNA differs according to the type of tissue. The highest expression was found in testis which may confirm the role of LPL in the process of spermatogenesis
Subject(s)
Animals, Laboratory , Animals , Lipoprotein Lipase/genetics , Cattle , Triglycerides/blood , Adipose Tissue , Testis , Heart , Liver , Polymerase Chain Reaction , Electrophoresis, Agar Gel , RNA, Messenger摘要
The etiology and pathogenesis of type 2 diabetes mellitus (T2DM) are not completely understood although it is often associated with other conditions such as obesity, hypertension, and dyslipidemia. Lipoprotein lipase (LPL) is a key enzyme in human lipid metabolism that facilitates the removal of triglyceride-rich lipoproteins from the bloodstream. LPL hydrolyzes the core of triglyceride-rich lipoproteins (chylomicrons and very low density lipoprotein) into free fatty acids and monoacylglycerol. To gain insight into the possible role of LPL in T2DM, nine single nucleotide polymorphisms (SNPs) of LPL were analyzed for the association with T2DM using 944 unrelated Koreans, including 474 T2DM subjects and 470 normal healthy controls. Of the nine LPL SNPs we analyzed, a significant association with multiple tests by the false discovery rate (FDR) was observed between T2DM and SNP rs343 (+13836C>A in intron 3). SNP rs343 was also marginally associated with some of T2DM-related phenotypes including total cholesterol, high density lipoprotein cholesterol (HDLc), and log transformed glycosylated hemoglobin in 470 normal controls, although no significant association was detected by multiple tests. In total, our results suggest that the control of lipid level by LPL in the bloodstream might be an important factor in T2DM pathogenesis in the Korean population.
Subject(s)
Aged , Female , Humans , Male , Middle Aged , Asian People , Cohort Studies , Databases, Genetic , Diabetes Mellitus, Type 2/genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Lipoprotein Lipase/genetics , Polymorphism, Single NucleotideSubject(s)
Adult , Apolipoprotein A-I/genetics , Apolipoproteins B/genetics , Apolipoproteins E/genetics , DNA Mutational Analysis , Family , Glucosylceramidase/genetics , Humans , Hyperlipoproteinemia Type II/complications , Hypoalphalipoproteinemias/complications , Lipoprotein Lipase/genetics , Male , Morocco , Pedigree , Phosphatidylcholine-Sterol O-Acyltransferase/genetics , Polymorphism, Single Nucleotide , Receptors, LDL/genetics摘要
The aim of the present study was to determine if there is an association between the single nucleotide polymorphisms (SNPs) of the lipoprotein lipase (LPL) and apolipoprotein E (apo E) genes and the serum lipid profile in pregnancy and puerperium. Non-diabetic women of European descent in the third semester of pregnancy (N = 120) were selected. Those with diseases or other condition that could modify their lipid profile were excluded from the study (N = 32). Serum lipids were measured by routine laboratory procedures and genomic DNA was extracted by a salting out method. LPL (PvuII and HindIII) and apo E (HhaI) SNPs were detected by the polymerase chain reaction and restriction fragment length polymorphism. Categorical and continuous variables were compared by the chi-square test and Student t-test or ANOVA, respectively. Women carrying the LPL P1P1 genotype had higher serum LDL cholesterol (N = 21; 155 ± 45 mg/dL) than women carrying the P1P2/P2P2 genotypes (N = 67; 133 ± 45 mg/dL; P = 0.032). During the puerperium period, serum levels of triglycerides and VLDL cholesterol were significantly reduced in women carrying the P1P1 (73 percent, P = 0.006) and P1P2 (51 percent, P = 0.002) genotypes but not in women carrying the P2P2 genotype (23 percent, P > 0.05). On the other hand, serum concentrations of lipids did not differ between the LPL HindIII and apo E genotypes during pregnancy and after delivery. We conclude that LPL PvuII SNP is associated with variations in serum lipids during pregnancy and the puerperal period in non-diabetic women.
Subject(s)
Adolescent , Adult , Female , Humans , Apolipoproteins E/genetics , Deoxyribonucleases, Type II Site-Specific/genetics , Lipids/blood , Lipoprotein Lipase/genetics , Postpartum Period/blood , Pregnancy/blood , Analysis of Variance , DNA , White People , Gene Frequency , Genotype , Lipids/genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide/genetics , Reference Values摘要
OBJETIVO: O objetivo deste estudo foi avaliar o efeito do polimorfismo S447X sobre os lípides plasmáticos em pacientes com doença arterial coronariana (DAC) prematura. MÉTODOS: Os lípides plasmáticos e a genotipagem foram determinados em 2 grupos: 313 pacientes com DAC prematura (<55 anos) e 150 controles sem DAC. RESULTADOS: A freqüência do polimorfismo S447X foi de 18 por cento nos pacientes com DAC e de 23 por cento no grupo controle. O polimorfismo S447X da lipase lipoprotéica está relacionado com diminuição das concentrações plasmática de triglicérides nos pacientes do sexo masculino com DAC, não havendo essa relação no sexo feminino. CONCLUSÃO: A presença do polimorfismo S447X da lípase lipoprotéica não foi associada à incidência de DAC.
OBJECTIVE: The objective of this study was to evaluate the effect of polymorphism S447X on plasma lipids of patients with premature coronary artery disease (CAD). METHODS: Plasma lipids and genotypes were determined in 2 groups: 313 patients with premature CAD (<55 years of age) and 150 controls without CAD. RESULTS: Frequency of the S447X polymorphism was 18 percent in patients with CAD and 23 percent in the control group. The S447X polymorphism of lipoprotein lipase is related to a decrease in plasma triglyceride concentrations in male patients with CAD, but this correlation is not observed in female patients. CONCLUSION: The presence of the S447X lipoprotein lipase polymorphism was not associated with the incidence of CAD.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Coronary Artery Disease/genetics , Lipids/blood , Lipoprotein Lipase/genetics , Polymorphism, Genetic/genetics , Brazil/epidemiology , Cholesterol/blood , Coronary Artery Disease/blood , Coronary Artery Disease/epidemiology , Epidemiologic Methods , Genotype , Sex Factors , Triglycerides/blood摘要
O advento da genômica trouxe ferramentas capazes de identificar marcadores moleculares de suscetibilidade para dislipidemia. Nós estudamos a gravidez como fator ambiental de estresse metabólico, juntamente com o efeito de alguns polimorfismos genéticos sobre a trigliceridemia. A amostra consistiu de grávidas caucasianas aparentemente saudáveis, que foram avaliadas no terceiro trimestre.Todas as mulheres foram testadas para os polimorfismos PvuII e HindIII do gene da lipoproteína lipase e HhaI da apolipoproteína E. Os polimorfismos HindIII e HhaI influenciaram o risco para dislipidemia / The advent of genomics has brought out tools, which are capable to identify molecular markers of susceptibility to dyslipidemia. We studied pregnancy as environmental factor of metabolic stress, together with the effect of some genetic polymorphisms on triglyceridemia. The sample consisted of apparently healthy caucasian pregnant women, who were analyzed in their third trimester of pregnancy. Every woman was tested for Pvull and Hindlll polymorphisms of the lipoprotein lipase gene and Hhal of the apolipoprotein E. The polymorphisms Hindlll and Hhal have contributed to the risk of dyslipidemia...
Subject(s)
Pregnancy , Adolescent , Adult , Middle Aged , Humans , Female , Body Mass Index , Cholesterol, LDL , Hyperlipidemias , Apolipoproteins E/genetics , Cholesterol, VLDL , Lipoprotein Lipase/genetics , Polymorphism, Restriction Fragment Length , Pregnancy Trimester, Third , Polymorphism, Single Nucleotide/genetics摘要
Lipoprotein lipase (LPL) plays a central role in the clearance of very low density lipoprotein (VLDL) and chylomicrons from the circulation. It also affects the maturation of high density lipoprotein (HDL) and low density lipoprotein (LDL). LPL is an important candidate gene in determining the risk factor in metabolic disorders including primary hyperlipidemia. Our study is the first report from Thailand on the characterization of two common DNA polymorphisms, i.e Pvu II and Hind III at introns 6 and 8, respectively of the LPL gene in 94 Thai dyslipidemic subjects compared to 32 normolipidemic subjects using PCR-RFLP. It was observed that the frequencies of the cut and uncut alleles of Pvu II were 0.67 and 0.33 in normolipidemic subjects. Such frequencies were 0.64 and 0.36 in hyperlipidemic subjects. Additionally, the frequencies of the cut and uncut alleles of Hind III were found to be 0.73 and 0.27 in normolipidemic subjects. They were 0.85 and 0.15 in hyperlipidemic subjects. The allele frequencies of the Hind III but not Pvu II polymorphism in hyperlipidemic subjects were significantly different from normolipidemic subjects (p<0.05). The relation between these polymorphisms and lipid traits was not statistically significant (p>0.05).
Subject(s)
Adult , Female , Humans , Hyperlipoproteinemias/genetics , Introns , Lipoprotein Lipase/genetics , Male , Middle Aged , Polymerase Chain Reaction/methods , Polymorphism, Genetic摘要
Lipoprotein lipase (LPL) is a multifunctional protein, playing a major role in the hydrolysis of triglyceride-rich lipoproteins. It also affects the maturation of high density lipoprotein (HDL) and low density lipoprotein (LDL). A D9N substitution is a frequent mutation found in exon 2 of the LPL gene. It is due to a G --> A transition causing a substitution of Asp by Asn at amino acid residue 9 of the protein. This mutation was screened for in 94 Thai primary dyslipidemic (46 hypercholesterolemic and 48 combined hyperlipidemic) subjects compared to 32 normal healthy subjects using PCR-RFLP. Such a mutation has not, yet, been detected in any of these Thai subjects.
Subject(s)
Adult , DNA Mutational Analysis , Electrophoresis, Agar Gel , Exons/genetics , Female , Humans , Hyperlipidemias/enzymology , Lipoprotein Lipase/genetics , Male , Middle Aged , Mutation , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Thailand摘要
Background: Lipoprotein lipase plays a crucial role in plasma lipoprotein metabolism. Several lipoprotein lipase gene polymorphisms have been found associated with lipid levels, premature atherosclerosis and cardiovascular disease. Aim: To investigate, in the Chilean population, the genotype distribution of lipoprotein lipase polymorphism and its possible association with lipid levels and obesity. Patients and methods: Hind III and Pvu II polymorphism was determined in 45 non-insulin-dependent diabetic patients and in 52 non diabetic controls from Santiago, Chile. Results: Hind III (+/+) polymorphism had a higher frequency in diabetics as compared to controls (0.6 and 0.29 respectively, p= 0.009). The frequency of heterozygous distribution was higher in non diabetic subjects. Controls and diabetics had comparable gene frequencies for the Pvu II genotype distribution. Analyzing the impact of these polymorphisms on plasma lipid levels, Hind III (+/+) genotype was associated with high Levels of total cholesterol and triglycerides in both groups. The hterozygote (+/-) or homozygote (-/-) state for Hind III was effectively associated with high levels of HDL cholesterol levels, as compared to the (+/+) genotype. There was no relationship between these genotypes and body mass index and waist to hip ratio. Conclusions: An association between genetic variation at the lipoprotein lipase locus with high levels of triglycerides and total cholesterol was confirmed. However, no association of these genetic markers with anthropometric measurements was found