scholarly journals Novel Mutation in the Apob Gene (Apo B-15.56): A Case Report

2010 ◽  
Vol 13 (2) ◽  
pp. 65-69
Author(s):  
M Bove ◽  
L Carnevali ◽  
A Cicero ◽  
P Tarugi ◽  
A Gaddi
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Low Density Lipoprotein ◽  
International Diabetes Federation ◽  
Density Lipoprotein ◽  
Single Nucleotide ◽  
Apo B ◽  
The Metabolic Syndrome ◽  
Familial Hypobetalipoproteinemia

Novel Mutation in the Apob Gene (Apo B-15.56): A Case ReportFamilial hypobetalipoproteinemia (FHBL) is a rare co-dominant genetic disorder characterized by decrease of plasma low density lipoprotein-cholesterol (LDL-c) or apolipoprotein B (Apo-B) equal to or less than the 5th percentile for the population. We describe a 48-year-old male who presented with fatty liver disease (FLD), insulin resistance (IR), obesity and hypertension. Our patient thus met the latest diagnostic criteria of the metabolic syndrome (MS) proposed by the Adult Treatment Panel and the International Diabetes Federation. However, he had very low plasma concentration of LDL-c and Apo-B. DNA sequencing showed that he and two first-degree relatives affected by obesity and mild IR were heterozygous for a single nucleotide deletion on exon 15 of the APOB gene, which was predicted to form a truncated Apo-B designated Apo B-15.56.

First Case Report of Familial Hypercholesterolemia in an Omani Family Due to Novel Mutation in the Low-Density Lipoprotein Receptor Gene

Angiology ◽  
2012 ◽  
Vol 64 (4) ◽  
pp. 287-292 ◽  
Author(s):  
Ali T. Al-Hinai ◽  
Abdulrahim Al-Abri ◽  
Humoud Al-Dhuhli ◽  
Khalid Al-Waili ◽  
Hilal Al-Sabti ◽  
...  
Keyword(s):  
Case Report ◽  
Familial Hypercholesterolemia ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Lipoprotein Receptor ◽  
First Case ◽  
Density Lipoprotein Receptor

scholarly journals PATIENTS WITH COMBINED HYPERLIPIDEMIA

2020 ◽  
pp. 1-2
Author(s):  
Nirmal Garbadu
Keyword(s):  
Genetic Disorder ◽  
Receptor Gene ◽  
Low Density Lipoprotein ◽  
Ldl Receptor ◽  
Density Lipoprotein ◽  
Cell Surface Receptor ◽  
Monogenic Disease ◽  
Atherosclerotic Cardiovascular Disease ◽  
Apo B ◽  
Ldl Catabolism

Combined Hyperlipidaemia or Familial hypercholesterolemia (FH) is a frequent genetic disorder viz., an autosomal codominant disorder, characterized by elevated low-density lipoprotein (LDL)-cholesterol (LDL-C) levels and early onset of atherosclerotic cardiovascular disease1. The expression of the genetic potential for these lipid disorders is a complex process which only occurs when genetically inherited predisposing factors interact with other metabolic factors that exacerbate hyperlipidaemia2. Adipose tissue secretes several adipocytokines (i.e. adiponectin, leptin, and others) that regulate appetite, immunity, inflammation, and glucose/lipid metabolism3. Basically, hepatocytes and steroid hormone-producing cells have LDL receptors. Normally, these cell surface receptor for LDL removes cholesterol-carrying LDL from the plasma by a process of receptor-mediated endocytosis. However, mutations in the LDL receptor gene results in FH4. FH is caused by mutations in genes that regulate LDL catabolism, mainly the LDL receptor (LDLR), apolipoprotein B (apo B), and gain of function of proprotein convertase subtilisin kexin type 9 (PCSK9). However, the phenotype may be encountered in individuals not carrying the latter monogenic defects, in approximately 20% of these effects of polygenes predominate, and in many individuals, no molecular defects are encountered at all. These so-called FH phenocopy individuals have an elevated atherosclerotic cardiovascular disease (CVD; ASCVD) risk in comparison with normolipidemic individuals but this risk is lower than in those with monogenic disease 1.

scholarly journals Polymorphism in the SIRT1 gene and parameters of metabolic syndrome in a sample of the adult Brazilian population

2016 ◽  
Vol 29 (1) ◽  
pp. 1-10 ◽  
Author(s):  
Marina Veloso de Oliveira MENEGUETTE ◽  
Camila Andréa de OLIVEIRA ◽  
Maria Helena de Melo LIMA ◽  
Kathleen Nicole PINA ◽  
Maria Esméria Corezola do AMARAL
Keyword(s):  
Metabolic Syndrome ◽  
Single Nucleotide Polymorphism ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Overweight And Obesity ◽  
Brazilian Population ◽  
Low Density ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
The Metabolic Syndrome

ABSTRACT Objective: To evaluate whether the single nucleotide polymorphism rs7895833 (A/G) of the gene SIRT1 is associated with metabolic syndrome criteria in a sample of Brazilian adults. Methods: Serum samples and oral mucosal cells were collected from 243 subjects aged 30 to 70 years. Biochemical, hormonal, and anthropometric data were obtained. The single nucleotide polymorphism rs7895833 (A/G) was analyzed by polymerase chain reaction using the amplification refractory mutation system. Results: Among the 243 study subjects, 100 (41.15%) were classified as non-metabolic syndrome and 143 (58.85%), as metabolic syndrome. The frequency of the single nucleotide polymorphism rs7895833 (A/G) did not differ between the groups. However, 111 patients (45.67%) were overweight (body mass index: 25-29.9 kg/m2). Blood glucose, total cholesterol, triglycerides, very low density lipoprotein, low density lipoprotein, waist and hip circumferences, and blood pressure were higher in the metabolic syndrome group than in the non-metabolic syndrome group. Free thyroxine 4, grown hormone, and insulin levels were within the normal range. The metabolic conditions of the patients with metabolic syndrome indicate biochemical, anthropometric, and hormonal changes characteristic of overweight and obesity. Conclusion: The SIRT1 polymorphism rs7895833 (A/G) is not associated with the metabolic syndrome in the adult Brazilian population.

scholarly journals Biochemical Data and Metabolic Profiles of Male Exclusive Narghile Smokers (ENSs) Compared With Apparently Healthy Nonsmokers (AHNSs)

2019 ◽  
Vol 13 (1) ◽  
pp. 155798831982575 ◽  
Author(s):  
Yosra Hasni ◽  
Sabrine Bachrouch ◽  
Mohamed Mahjoub ◽  
Amel Maaroufi ◽  
Sonia Rouatbi ◽  
...  
Keyword(s):  
Smoking Status ◽  
Low Density Lipoprotein ◽  
International Diabetes Federation ◽  
Density Lipoprotein ◽  
Normal Weight ◽  
Lower Percentage ◽  
Metabolic Profiles ◽  
The Metabolic Syndrome ◽  
Low Hdl ◽  
History Of

Studies evaluating the metabolic profiles of ENSs are scarce and presented controversial conclusions. This study aimed to compare the metabolic profiles of ENSs’ and AHNSs’ groups. Males aged 25–45 years and free from a known history of metabolic and/or cardiovascular diseases were included. According to the smoking status, two groups of ENSs and AHNSs were identified. Body mass index (BMI, kg/m2), waist circumference (WC, cm), systolic and diastolic blood pressures (SBP, DBP, mmHg), fasting blood data in mmol/L (blood glycemia [FBG], triglycerides [TG], total cholesterol [TC], high- and low- density lipoprotein cholesterol [HDL-C, LDL-C]) and obesity status were evaluated. The metabolic syndrome (MetS) was defined according to the 2006 International Diabetes Federation (IDF) recommendations. Data were expressed as mean ± standard deviation ( SD) or percentages. Compared to the AHNSs’ group ( n = 29), the ENSs’ one ( n = 29) had (a) higher values of BMI (26.5 ± 2.3 vs. 28.2 ± 3.6), WC (95 ± 7 vs. 100 ± 10), and TG (1.22 ± 0.40 vs. 1.87 ± 0.85); and (b) included a lower percentage of males having low HDL-C (82.7% vs. 62.0%), and higher percentages of males having obesity (6.9% vs. 37.9%) or hypertriglyceridemia (10.7% vs. 51.7%). Both the ENSs’ and AHNSs’ groups: (a) had similar values of FBG (5.38 ± 0.58 vs. 5.60 ± 0.37), TC (4.87 ± 1.16 vs. 4.36 ± 0.74), HDL-C (0.92 ± 0.30 vs. 0.82 ± 0.21), LDL-C (3.09 ± 0.98 vs. 2.92 ± 0.77), SBP (117 ± 9 vs. 115 ± 8), and DBP (76 ± 6 vs. 73 ± 7); and (b) included similar percentages of males having normal weight (17.2% vs. 31.0%); overweight (44.8% vs. 62.1%); android obesity (79.3% vs. 59.6%), hypertension (10.3% vs. 10.3%), hyperglycemia (37.9% vs. 48.2%), and MetS (51.7% vs. 34.5%). There is a need to monitor narghile use among male metabolic patients since it alters some components of the MetS.

scholarly journals A Novel p.K116Q SNP in the OLR1 Gene and Its Relation to Fecundity in Awassi Ewes

2021 ◽  
Author(s):  
Mohammed M. Mohammed ◽  
Tahreer Mohammed Al-Thuwaini ◽  
Mohammed Baqur S. Al-Shuhaib
Keyword(s):  
Litter Size ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Reproductive Traits ◽  
The Novel ◽  
Single Nucleotide ◽  
Awassi Sheep ◽  
Density Lipoprotein Receptor

Abstract BackgroundSheep's fecundity is determined by both twinning rate and litter size, both influenced by several genes, one of which is OLR1 (oxidized low-density lipoprotein receptor gene). This study aimed to determine the genetic variation of the OLR1 gene affecting the fecundity traits of Awassi ewes. ResultsTwo genotypes of 334-bp amplicons, CC and CA were detected. In a sequence reaction, the novel mutation p.K116Q was discovered in CA genotypes. There was a highly significant (P ≤ 0.01) association between the single nucleotide polymorphism (SNP) and reproductive traits, in that sheep with the p.K116Q SNP had lower litter size, twinning rate, fecundity, and lambing percentages than individuals with CC genotypes. The ewes with CC genotypes had 1.98 lambs more than those with CA genotypes. These observations imply that the missense p.K116Q variant has an adverse effect on the traits under study. ConclusionsAs such, SNP p.K116Q appears to negatively influence fecundity traits in Awassi sheep. The data evidence that the OLR1 gene variant is one of the most important candidates for marker-assisted selection in the sheep industry.

scholarly journals Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

Metabolites ◽  
2021 ◽  
Vol 11 (9) ◽  
pp. 564
Author(s):  
Carine Ayoub ◽  
Yara Azar ◽  
Yara Abou-Khalil ◽  
Youmna Ghaleb ◽  
Sandy Elbitar ◽  
...  
Keyword(s):  
Plasma Levels ◽  
Genetic Disorder ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Apob Gene ◽  
Genetic Studies ◽  
East Region ◽  
Familial Hypobetalipoproteinemia ◽  
Middle East Region ◽  
Mutant Haplotype

Familial hypobetalipoproteinemia (FHBL) is a codominant genetic disorder characterized by reduced plasma levels of low-density lipoprotein cholesterol and apolipoprotein B. To our knowledge, no study on FHBL in Lebanon and the Middle East region has been reported. Therefore, we conducted genetic studies in unrelated families and probands of Lebanese origin presenting with FHBL, in order to identify the causes of this disease. We found that 71% of the recruited probands and their affected relatives were heterozygous for the p.(Arg490Trp) variant in the APOB gene. Haplotype analysis showed that these patients presented the same mutant haplotype. Moreover, there was a decrease in plasma levels of PCSK9 in affected individuals compared to the non-affected and a significant positive correlation between circulating PCSK9 and ApoB levels in all studied probands and their family members. Some of the p.(Arg490Trp) carriers suffered from diabetes, hepatic steatosis or neurological problems. In conclusion, the p.(Arg490Trp) pathogenic variant seems a cause of FHBL in patients from Lebanese origin, accounting for approximately 70% of the probands with FHBL presumably as a result of a founder mutation in Lebanon. This study is crucial to guide the early diagnosis, management and prevention of the associated complications of this disease.

scholarly journals Scutellaria baicalensis Alleviates Insulin Resistance in Diet-Induced Obese Mice by Modulating Inflammation

2019 ◽  
Vol 20 (3) ◽  
pp. 727 ◽  
Author(s):  
Hyun-Young Na ◽  
Byung-Cheol Lee
Keyword(s):  
Insulin Resistance ◽  
Inflammatory Responses ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Postprandial Glucose ◽  
Scutellaria Baicalensis ◽  
Necrosis Factor Alpha ◽  
Insulin Resistant ◽  
The Metabolic Syndrome ◽  
Epididymal Fat

Insulin resistance is strongly associated with the metabolic syndrome, and chronic inflammation is known to be a major mechanism of insulin resistance and is a therapeutic target. This study was designed to evaluate the effect of Scutellaria baicalensis (SB) in high-fat diet (HFD)-induced insulin-resistant mice and to investigate its mechanism based on inflammatory responses. Mice were fed a HFD to induce insulin resistance and then administered SB for nine weeks. Body weight, glucose, lipid, insulin, epididymal fat pad and liver weights, and histologic characteristics were evaluated to determine the effect on insulin resistance. In order to evaluate the effects on the inflammatory process, we analyzed the proportions of macrophages in liver and epididymal fat and measured inflammatory gene expression. Fasting and postprandial glucose, fasting insulin, HOMA-IR, triglycerides, and low density lipoprotein cholesterol levels were significantly decreased by SB administration. The epididymal fat and liver showed significant weight decreases and histological improvements. Total adipose tissue macrophages (ATMs) decreased (27.71 ± 3.47% vs. 45.26 ± 7.26%, p < 0.05), M2 ATMs increased (47.02 ± 6.63% vs. 24.28 ± 8.00%, p < 0.05), and CD11b+ Kupffer cells decreased. The expression levels of tumor necrosis factor alpha and F4/80 in the liver were significantly decreased (12.03 ± 1.47% vs. 25.88 ± 4.57%, p < 0.05) compared to HFD group. These results suggest that SB improved insulin resistance through inhibition of macrophage-mediated inflammation.

scholarly journals The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population

2018 ◽  
Vol 103 (5) ◽  
pp. 1834-1841 ◽  
Author(s):  
Safa Mujahid ◽  
Katharine F Hunt ◽  
Yee S Cheah ◽  
Elizabeth Forsythe ◽  
Jonathan M Hazlehurst ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Subclinical Hypothyroidism ◽  
Matched Control ◽  
Genetic Diagnosis ◽  
International Diabetes Federation ◽  
Density Lipoprotein ◽  
Bardet Biedl Syndrome ◽  
Metabolic Characteristics ◽  
Control Subjects ◽  
The Metabolic Syndrome

Abstract Context Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. Objective We describe the endocrine and metabolic characteristics of a large BBS population compared with matched control subjects. Design We performed a case-control study. Setting This study was performed at a hospital clinic. Patients Study patients had a clinical or genetic diagnosis of BBS. Main Outcome Measurements Our study determined the prevalence of a metabolic syndrome in our cohort. Results A total of 152 subjects were studied. Eighty-four (55.3%) were male. Mean (± standard deviation) age was 33.2 ± 1.0 years. Compared with age-, sex-, and body mass index–matched control subjects, fasting glucose and insulin levels were significantly higher in subjects with BBS (glucose: BBS, 5.2 ± 1.2 mmol/L vs control, 4.9 ± 0.9 mmol/L, P = 0.04; insulin: BBS, 24.2 ± 17.0 pmol/L vs control, 14.2 ± 14.8 pmol/L, P &lt; 0.001). Serum triglycerides were significantly higher in subjects with BBS (2.0 ± 1.2 mmol/L) compared with control subjects (1.3 ± 0.8 mmol/L; P &lt; 0.001), but total cholesterol, high-density lipoprotein, and low-density lipoprotein were similar in both groups. Systolic blood pressure was higher in the BBS group (BBS, 135 ± 18 mm Hg vs control subjects, 129 ± 16 mm Hg; P = 0.02). Alanine transaminase was raised in 34 (26.8%) subjects with BBS, compared with five (8.9%) control subjects (P = 0.01). The rate of metabolic syndrome, determined using International Diabetes Federation criteria, was significantly higher in the BBS group (54.3%) compared with control subjects (26% P &lt; 0.001). Twenty-six (19.5%) of male subjects with BBS were hypogonadal (serum testosterone, 9.9 ± 5.3 mmol/L), but significant pituitary abnormalities were uncommon. Subclinical hypothyroidism was present in 24 of 125 (19.4%) patients with BBS, compared with 3 of 65 (4.6%) control subjects (P = 0.01). Conclusions Insulin resistance and the metabolic syndrome are increased in adult patients with BBS compared with matched control subjects. Increased subclinical hypothyroidism in the BBS cohort needs further investigation.

scholarly journals Ligand selectivity of 105 kDa and 130 kDa lipoprotein-binding proteins in vascular-smooth-muscle-cell membranes is unique

1996 ◽  
Vol 317 (1) ◽  
pp. 297-304 ◽  
Author(s):  
Valery N. BOCHKOV ◽  
Vsevolod A. TKACHUK ◽  
Maria P. PHILIPPOVA ◽  
Dimitri V. STAMBOLSKY ◽  
Fritz R. BÜHLER ◽  
...  
Keyword(s):  
Smooth Muscle ◽  
Binding Proteins ◽  
Low Density Lipoprotein ◽  
Ldl Receptor ◽  
Density Lipoprotein ◽  
Low Density ◽  
Dextran Sulphate ◽  
Apo B ◽  
Ligand Selectivity ◽  
Lipoprotein Binding

Using ligand blotting techniques, with low-density lipoprotein (LDL) as ligand, we have previously described the existence of atypical lipoprotein-binding proteins (105 kDa and 130 kDa) in membranes from human aortic medial tissue. The present study demonstrates that these proteins are also present in membranes from cultured human (aortic and mesenteric) and rat (aortic) vascular smooth-muscle cells (VSMCs). To assess the relationship of 105 and 130 kDa lipoprotein-binding proteins to known lipoprotein receptors, ligand binding specificity was studied. We tested effects of substances known to antagonize ligand binding to either the LDL [apolipoprotein B,E (apo B,E)] receptor (dextran sulphate, heparin, pentosan polysulphate, protamine, spermine, histone), the scavenger receptor (dextran sulphate, fucoidin), the very-low-density-lipoprotein (VLDL) receptor [receptor-associated protein (RAP)], or LDL receptor-related protein (RAP, α2-macroglobulin, lipoprotein lipase, exotoxin-A). None of these substances, with the exception of dextran sulphate, influenced binding of LDL to either 105 or 130 kDa proteins. Sodium oleate or oleic acid, known stimuli for the lipoprotein binding activity of the lipolysis-stimulated receptor, were also without effect. LDL binding to 105 and 130 kDa proteins was inhibited by anti-LDL (apo B) antibodies. LDL and VLDL bound to 105 and 130 kDa proteins with similar affinities (蝶50 μg/ml). The unique ligand selectivity of 105 and 130 kDa proteins supports the existence of a novel lipoprotein-binding protein that is distinct from all other currently identified LDL receptor family members. The similar ligand selectivity of 105 and 130 kDa proteins suggests that they may represent variant forms of an atypical lipoprotein-binding protein.

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