Identification of the apo B-3500 mutation in the Norwegian population

Abstract Introduction Ataxia-Telangiectasia (A-T) is a multi-system disorder that may be associated with endocrine changes, oxidative stress in addition to inflammation. Studies suggest that selenium is a trace element related to protection against damage caused by oxidative stress. Objective To describe the plasma levels of selenium and erythrocyte glutathione peroxidase activity in A-T patients and to relate them to oxidative stress and lipid status biomarkers. Methods This is a cross-sectional and controlled study evaluating 22 A-T patients (age median, 12.2 years old) matched by gender and age with 18 healthy controls. We evaluated: nutritional status, food intake, plasma selenium levels, erythrocyte glutathione peroxidase activity, lipid status, inflammation and oxidative stress biomarkers. Results Adequate levels of selenium were observed in 24/36 (66.7%) in this evaluated population. There was no statistically significant difference between the groups in selenium levels [47.6 μg/L (43.2–57.0) vs 54.6 (45.2–62.6) μg/dL, p = 0.242]. Nine of A-T patients (41%) had selenium levels below the reference value. The A-T group presented higher levels of LDL-c, non-HDL-c, oxidized LDL, Apo B, Apo-B/Apo-A-I1, LDL-c/HDL-c ratio, malondialdehyde [3.8 µg/L vs 2.8 µg/L, p = 0.029] and lower Apo-A-I1/HDL-c and glutathione peroxidase activity [7300 U/L vs 8686 U/L, p = 0.005]. Selenium levels were influenced, in both groups, independently, by the concentrations of oxidized LDL, malonaldehyde and non-HDL-c. The oxidized LDL (AUC = 0.849) and ALT (AUC = 0.854) were the variables that showed the greatest discriminatory power between groups. Conclusion In conclusion, we observed the presence of selenium below the reference value in nearly 40% and low GPx activity in A-T patients. There was a significant, inverse and independent association between selenium concentrations and oxidative stress biomarkers. Those data reinforce the importance of assessing the nutritional status of selenium in those patients.

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Cholesterol esterification in macrophages. Stimulation by lipoproteins containing apo B isolated from human aortas.

Arteriosclerosis An Official Journal of the American Heart Association Inc ◽

10.1161/01.atv.4.3.196 ◽

1984 ◽

Vol 4 (3) ◽

pp. 196-207 ◽

Cited By ~ 86

Author(s):

B A Clevidence ◽

R E Morton ◽

G West ◽

D M Dusek ◽

H F Hoff

Keyword(s):

Cholesterol Esterification ◽

Apo B

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Familial hypertriglyceridemia: an entity with distinguishable features from other causes of hypertriglyceridemia

Lipids in Health and Disease ◽

10.1186/s12944-021-01436-6 ◽

2021 ◽

Vol 20 (1) ◽

Author(s):

Ivette Cruz-Bautista ◽

Alicia Huerta-Chagoya ◽

Hortensia Moreno-Macías ◽

Rosario Rodríguez-Guillén ◽

María Luisa Ordóñez-Sánchez ◽

...

Keyword(s):

Apolipoprotein B ◽

Rare Variants ◽

Regulatory Proteins ◽

Fibroblast Growth Factor 21 ◽

Fibroblast Growth ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Apo B ◽

Independent Components ◽

Apolipoprotein A

Abstract Background Familial hypertriglyceridemia (FHTG) is a partially characterized primary dyslipidemia which is frequently confused with other forms hypertriglyceridemia. The aim of this work is to search for specific features that can help physicians recognize this disease. Methods This study included 84 FHTG cases, 728 subjects with common mild-to-moderate hypertriglyceridemia (CHTG) and 609 normotriglyceridemic controls. All subjects underwent genetic, clinical and biochemical assessments. A set of 53 single nucleotide polymorphisms (SNPs) previously associated with triglycerides levels, as well as 37 rare variants within the five main genes associated with hypertriglyceridemia (i.e. LPL, APOC2, APOA5, LMF1 and GPIHBP1) were analyzed. A panel of endocrine regulatory proteins associated with triglycerides homeostasis were compared between the FHTG and CHTG groups. Results Apolipoprotein B, fibroblast growth factor 21(FGF-21), angiopoietin-like proteins 3 (ANGPTL3) and apolipoprotein A-II concentrations, were independent components of a model to detect FHTG compared with CHTG (AUC 0.948, 95%CI 0.901–0.970, 98.5% sensitivity, 92.2% specificity, P < 0.001). The polygenic set of SNPs, accounted for 1.78% of the variance in triglyceride levels in FHTG and 6.73% in CHTG. Conclusions The clinical and genetic differences observed between FHTG and CHTG supports the notion that FHTG is a unique entity, distinguishable from other causes of hypertriglyceridemia by the higher concentrations of insulin, FGF-21, ANGPTL3, apo A-II and lower levels of apo B. We propose the inclusion of these parameters as useful markers for differentiating FHTG from other causes of hypertriglyceridemia.

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Effect of low glycaemic index or load dietary patterns on glycaemic control and cardiometabolic risk factors in diabetes: systematic review and meta-analysis of randomised controlled trials

BMJ ◽

10.1136/bmj.n1651 ◽

2021 ◽

pp. n1651 ◽

Cited By ~ 1

Author(s):

Laura Chiavaroli ◽

Danielle Lee ◽

Amna Ahmed ◽

Annette Cheung ◽

Tauseef A Khan ◽

...

Keyword(s):

Blood Pressure ◽

Glycaemic Control ◽

Dietary Patterns ◽

Randomised Controlled Trials ◽

Meta Analysis ◽

Density Lipoprotein ◽

Glycaemic Index ◽

Controlled Trials ◽

Apo B ◽

Randomised Controlled

Abstract Objective To inform the update of the European Association for the Study of Diabetes clinical practice guidelines for nutrition therapy. Design Systematic review and meta-analysis of randomised controlled trials. Data sources Medline, Embase, and the Cochrane Library searched up to 13 May 2021. Eligibility criteria for selecting studies Randomised controlled trials of three or more weeks investigating the effect of diets with low glycaemic index (GI)/glycaemic load (GL) in diabetes. Outcome and measures The primary outcome was glycated haemoglobin (HbA 1c ). Secondary outcomes included other markers of glycaemic control (fasting glucose, fasting insulin); blood lipids (low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), non-HDL-C, apo B, triglycerides); adiposity (body weight, BMI, waist circumference), blood pressure (systolic blood pressure (SBP) and diastolic blood pressure (DBP)), and inflammation (C reactive protein (CRP)). Data extraction and synthesis Two independent reviewers extracted data and assessed risk of bias. Data were pooled by random effects models. GRADE (grading of recommendations assessment, development, and evaluation) was used to assess the certainty of evidence. Results 29 trial comparisons were identified in 1617 participants with type 1 and 2 diabetes who were predominantly middle aged, overweight, or obese with moderately controlled type 2 diabetes treated by hyperglycaemia drugs or insulin. Low GI/GL dietary patterns reduced HbA 1c in comparison with higher GI/GL control diets (mean difference −0.31% (95% confidence interval −0.42 to −0.19%), P<0.001; substantial heterogeneity, I 2 =75%, P<0.001). Reductions occurred also in fasting glucose, LDL-C, non-HDL-C, apo B, triglycerides, body weight, BMI, and CRP (P<0.05), but not blood insulin, HDL-C, waist circumference, or blood pressure. A positive dose-response gradient was seen for the difference in GL and HbA 1c and for absolute dietary GI and SBP (P<0.05). The certainty of evidence was high for the reduction in HbA 1c and moderate for most secondary outcomes, with downgrades due mainly to imprecision. Conclusions This synthesis suggests that low GI/GL dietary patterns result in small important improvements in established targets of glycaemic control, blood lipids, adiposity, and inflammation beyond concurrent treatment with hyperglycaemia drugs or insulin, predominantly in adults with moderately controlled type 1 and type 2 diabetes. The available evidence provides a good indication of the likely benefit in this population. Study registration ClinicalTrials.gov NCT04045938 .

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Lipoprotein binding to canine hepatic membranes. Metabolically distinct apo-E and apo-B,E receptors.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(19)69254-9 ◽

1981 ◽

Vol 256 (11) ◽

pp. 5646-5655 ◽

Cited By ~ 54

Author(s):

D.Y. Hui ◽

T.L. Innerarity ◽

R.W. Mahley

Keyword(s):

Apo B ◽

Apo E ◽

Lipoprotein Binding

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Parasitic fauna of Eurasian beavers (Castor fiber) in Sweden (1997–1998)

Acta Veterinaria Scandinavica ◽

10.1186/s13028-021-00588-w ◽

2021 ◽

Vol 63 (1) ◽

Author(s):

Per-Arne Åhlen ◽

Göran Sjöberg ◽

Margareta Stéen

Keyword(s):

Age Groups ◽

Ecological Factors ◽

Parasite Fauna ◽

Castor Fiber ◽

Older Individuals ◽

Parasitic Fauna ◽

Eurasian Beaver ◽

Norwegian Population ◽

Stichorchis Subtriquetrus ◽

One Year

Abstract Background The parasitic fauna of beavers (Castor fiber and C. canadensis) has been well studied in many parts of their respective areas of distribution. In Scandinavia there have, however, been limited investigations conducted on the parasites of beavers in recent times. The present study is the first quantitative survey of parasites on beavers living in Sweden and elsewhere in Scandinavia. We investigated the parasitic fauna of the Eurasian beaver (C. fiber) in a North–South gradient in Sweden. The aim of the study was to investigate parasite distribution and prevalence in particular, related to average yearly air temperature and different age groups of beavers. A total of 30 beavers were sampled at eight localities, spanning a 720 km North–South gradient during the springs of 1997 and 1998. Results Five parasite taxa were identified. Four of these were present in all of the examined beavers, Stichorchis subtriquetrus (trematode), Travassosius rufus (nematode), Platypsyllus castoris (coleopteran), and Schizocarpus spp. (arachnid). A higher number of new infections of S. subtriquetrus, and more adults of T. rufus, were seen in beavers in southern Sweden where temperatures are higher. One-year old beavers had a higher infestation of S. subtriquetrus, but not of T. rufus, than older individuals. Conclusions The parasite fauna of Swedish beavers mirrored the impoverished parasite fauna of the original Norwegian population, and the high prevalence of parasites could be due to low major histocompatibility complex (MHC) polymorphism. Young beavers had a higher load of trematodes, probably depending on behavioural and ecological factors. Warmer temperatures in southern localities likely contributed to increased endoparasite loads.

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