Context: Geographic distribution of ATP7B mutations in different populations.
Objective: To summarise common mutations in the ATP7B gene and graphically illustrate their prevalence in different ...populations.
Methods: A literature search was done using PubMed and the Wilson Disease Mutation Database (
http://www.wilsondisease.med.ualberta.ca/database
).
Results: p.His1069Gln is the most prevalent mutation seen in Europe. In the Mediterranean countries, the array of prevalent mutations is different from the rest of Europe. In Far East Asian countries, the mutation p.Arg778Leu is the most common. In India, no single mutation seems to be dominant, owing to the vast ethnic diversity of the country. The p.Cys271* mutation is dominant in the east, west and south, but not reported in the north. In the Middle East, data from Saudi Arabia shows the p.Gln1399Arg mutation as the most prevalent. In the US, the p.His1069Gln is dominant, whereas in Brazil the mutation c.3402delC dominates.
Conclusion: Clinical features in WD patients can be misleading and often absent. Genetic testing is used to confirm the diagnosis. However, owing to the large gene size and vast diversity in the mutations, genetic testing can be time-consuming and tedious. This study reviews ATP7B mutations seen in different populations and can help develop time-saving methods and expediate the process of genetic analysis of WD.
Previous research has allowed the identification of variants related to the vascular endothelial growth factor-A (VEGF-A) and their association with anthropometric, lipidemic and glycemic indices. ...The present study examined potential relations between key VEGF-A-related single-nucleotide polymorphisms (SNPs), cardiometabolic parameters and dietary habits in an adolescent cohort. Cross-sectional analyses were conducted using baseline data from 766 participants of the Greek TEENAGE study. Eleven VEGF-A-related SNPs were examined for associations with cardiometabolic indices through multivariate linear regressions after adjusting for confounding factors. A 9-SNP unweighted genetic risk score (uGRS) for increased VEGF-A levels was constructed to examine associations and the effect of its interactions with previously extracted dietary patterns for the cohort. Two variants (rs4416670, rs7043199) displayed significant associations (
-values < 0.005) with the logarithms of systolic and diastolic blood pressure (logSBP and logDBP). The uGRS was significantly associated with higher values of the logarithm of Body Mass Index (logBMI) and logSBP (
-values < 0.05). Interactions between the uGRS and specific dietary patterns were related to higher logDBP and logGlucose (
-values < 0.01). The present analyses constitute the first-ever attempt to investigate the influence of VEGF-A-related variants on teenage cardiometabolic determinants, unveiling several associations and the modifying effect of diet.
•To our knowledge, this is the first study to investigate association of dietary patterns with non-alcoholic fatty liver disease (NAFLD) in a European population.•Individuals with the highest ...adherence to a fast food–type dietary pattern had significantly higher odds for NAFLD than those with the lowest adherence after adjusting for age, sex, energy intake, physical activity level, pack-years smoked, education years, and presence of metabolic syndrome.•Individuals in the second quartile of an unsaturated fatty acid dietary pattern had significantly reduced odds of developing the NAFLD than those in the first quartile after adjusting for the same confounding factors.•Higher adherence to a fast food-type dietary pattern was independently associated with increased C-reactive protein and uric acid levels.•Higher adherence to a prudent dietary pattern was independently associated with reduced triacylglycerol and uric acid levels.•Higher adherence to the unsaturated fatty acid pattern was significantly associated with reduced insulin resistance and fasting insulin levels.
The aim of this study was to test the hypothesis that posteriori-derived dietary patterns of a Greek sample are associated with the odds for non-alcoholic fatty liver disease (NAFLD) and common NAFLD-related biomarkers.
We recruited 351 individuals (134 NAFLD patients, 217 controls). NAFLD was diagnosed with abdominal ultrasound. Dietary intake data were collected through a semi-quantitative food frequency questionnaire of 172 items and dietary patterns were derived by factor analysis. Consumption of dietary patterns was divided into quartiles. Multivariate logistic and linear regression models were applied to investigate associations of dietary patterns with NAFLD odds and common NAFLD-associated biomarkers.
Four dietary patterns were identified. Adherence to the fast food–type dietary pattern was independently associated with higher odds for NAFLD. However, results were statistically significant only for the highest versus the lowest consumption (odds ratio, 3.9; P = 0.003). On the contrary, individuals in the second quartile of the unsaturated fatty acid dietary pattern had 55.7% reduced odds of developing NAFLD than those in the first quartile after adjusting for age, sex, energy intake, physical activity level, pack-years smoked, education years, and presence of metabolic syndrome (P = 0.039). The fast food–type pattern was further associated with higher levels of C-reactive protein and uric acid and the unsaturated fatty acid pattern with reduced levels of insulin and homeostatic model assessment of insulin resistance (P < 0.05). The prudent dietary pattern was associated with decreased triacylglycerol and uric acid levels (β = –5.960; P = 0.037 and β = –0.153; P = 0.035, respectively).
This is the first study to indicate associations of dietary patterns with NAFLD in a European population.
Mastiha is a natural nutritional supplement with known anti-inflammatory properties. Non-alcoholic fatty liver disease (NAFLD) and Inflammatory bowel disease (IBD) are immune mediated inflammatory ...diseases that share common pathophysiological features. Mastiha has shown beneficial effects in both diseases. MicroRNAs have emerged as key regulators of inflammation and their modulation by phytochemicals have been extensively studied over the last years. Therefore, the aim of this study was to investigate whether a common route exists in the anti-inflammatory activity of Mastiha, specifically through the regulation of miRNA levels. Plasma miR-16, miR-21 and miR-155 were measured by Real-Time PCR before and after two double blinded and placebo-controlled randomized clinical trials with Mastiha. In IBD and particularly in ulcerative colitis patients in relapse, miR-155 increased in the placebo group (p = 0.054) whereas this increase was prevented by Mastiha. The mean changes were different in the two groups even after adjusting for age, sex and BMI (p = 0.024 for IBD and p = 0.042). Although the results were not so prominent in NAFLD, miR-155 displayed a downward trend in the placebo group (p = 0.054) whereas the levels did not changed significantly in the Mastiha group in patients with less advanced fibrosis. Our results propose a regulatory role for Mastiha in circulating levels of miR-155, a critical player in T helper-17 (Th17) differentiation and function.
Display omitted
•The common molecular route of Mastiha’s effects in IBD and NAFLD is unexplored.•Increase of miRNA-155 in active UC is ameliorated by Mastiha.•Likewise, Mastiha ameliorates a decrease of plasma miRNA-155 in NAFLD.•Mastiha’s anti-inflammatory effect is mediated by miRNA-155 regulation.
: The quality of carbohydrate consumed may influence the risk of frailty. In this study, we tested the hypothesis that indices of carbohydrate intake are associated with trajectories of frailty in ...participants of the Baltimore Longitudinal Study of Aging (BLSA).
: Cross sectional and longitudinal analyses were conducted in 1024 BLSA participants to examine the association between usual intake of carbohydrate and frailty index. Seven measures of carbohydrate consumption were estimated using data derived from Food Frequency Questionnaires (FFQs) and examined in association with a 43-item Frailty Index (FI).
In cross-sectional analyses, there was a significant, positive association between higher tertiles of total carbohydrate, glycemic load, and non-whole grains and FI. Conversely, higher tertiles of fiber-to-carbohydrate ratio was associated with lower FI. These differences persisted over the follow-up period of up to 13.8 years. Women in the highest tertile of the fiber-to-carbohydrate ratio showed a less steep increase in FI over time.
: Carbohydrate intake was positively associated with increased frailty risk in the BLSA participants, whereas a higher fiber-to-carbohydrate ratio was related to reduced risk for frailty.
Metabolic dysfunction-associated steatotic liver disease (MASLD), described as the most prominent cause of chronic liver disease worldwide, has emerged as a significant public health issue, posing a ...considerable challenge for most countries. Endocrine-disrupting chemicals (EDCs), commonly found in daily use items and foods, are able to interfere with nuclear receptors (NRs) and disturb hormonal signaling and mitochondrial function, leading, among other metabolic disorders, to MASLD. EDCs have also been proposed to cause transgenerationally inherited alterations leading to increased disease susceptibility. In this review, we are focusing on the most prominent linking pathways between EDCs and MASLD, their role in the induction of epigenetic transgenerational inheritance of the disease as well as up-to-date practices aimed at reducing their impact.
The present study sought to retrospectively investigate the dietary habits of two adolescent, European populations from the cross-sectional Greek TEENAGE Study and French STANISLAS Family Study. We ...aimed to explore the relation between the populations' dietary patterns and blood pressure, glycemic and lipidemic profile. Dietary patterns were extracted via Principal Component Analysis (PCA), based on data collected from two 24 h dietary recalls for the TEENAGE study and a 3-day food consumption diary for the STANISLAS study. Multiple linear regressions and mixed models analyses, adjusting for confounding factors, were employed to investigate potential associations. A total of 766 Greek teenagers and 287 French teenagers, were included in analyses. Five dietary patterns were extracted for each population accounting for 49.35% and 46.69% of their respective total variance, with similarities regarding the consumption of specific food groups (i.e., western-type foods). In the TEENAGE Study, the "chicken and sugars" pattern was associated with lower CRP levels, after adjusting for confounding factors (
-value < 0.01). The "high protein and animal fat" dietary pattern of the STANISLAS Family Study was related to higher BMI (
-value < 0.01) and higher triglycerides levels (
-value < 0.01). Our findings summarize the dietary habits of two teenage, European populations and their associations with cardiometabolic risk factors.
Non-alcoholic fatty liver disease (NAFLD) is a disease with multidimensional complexities. Many attempts have been made over the years to treat this disease but its incidence is rising. For this ...reason, the need to identify and study new candidate proteins that may be associated with NAFLD is of utmost importance. Systems-based approaches such as the analysis of protein-protein interaction (PPI) network could lead to the discovery of new proteins associated with a disease that can then be translated into clinical practice. The aim of this study is to analyze the interaction network of human proteins associated with NAFLD as well as their experimentally verified interactors and to identify novel associations with other human proteins that may be involved in this disease. Computational analysis made it feasible to detect 77 candidate proteins associated with NAFLD, having high network scores. Furthermore, clustering analysis was performed to identify densely connected regions with biological significance in this network. Additionally, gene expression analysis was conducted to validate part of the findings of this research work. We believe that our research will be helpful in extending experimental efforts to address the pathogenesis and progression of NAFLD.
•Network of proteins associated with Non-Alcoholic Fatty Liver Disease (NAFLD).•NAFLD Interactome contains 2624 proteins, 226 of which are associated with NAFLD.•Network analysis identified 77 new candidate NAFLD-related proteins.•NAFLD Interactome browser-based web application is available at/NAFLDInteractome.
An ensemble of confounding factors, such as an unhealthy diet, obesity, physical inactivity, and smoking, have been linked to a lifestyle that increases one's susceptibility to chronic diseases and ...early mortality. The circulatory metabolome may provide a rational means of pinpointing the advent of metabolite variations that reflect an adherence to a lifestyle and are associated with the occurrence of chronic diseases. Data related to four major modifiable lifestyle factors, including adherence to the Mediterranean diet (estimated on MedDietScore), body mass index (BMI), smoking, and physical activity level (PAL), were used to create the lifestyle risk score (LS). The LS was further categorized into four groups, where a higher score group indicates a less healthy lifestyle. Drawing on this, we analyzed 223 NMR serum spectra, 89 MASLD patients and 134 controls; these were coupled to chemometrics to identify "key" features and understand the biological processes involved in specific lifestyles. The unsupervised analysis verified that lifestyle was the factor influencing the samples' differentiation, while the supervised analysis highlighted metabolic signatures. Τhe metabolic ratios of alanine/formic acid and leucine/formic acid, with AUROC > 0.8, may constitute discriminant indexes of lifestyle. On these grounds, this research contributed to understanding the impact of lifestyle on the circulatory metabolome and highlighted "prudent lifestyle" biomarkers.
Introduction: Diet is one of the most important modifiable risk factors associated with cardiovascular health (CH). Research identifying dietary patterns (DPs) through data-driven analysis and ...reporting associations between DPs and coronary artery disease (CAD) outcomes is rather limited. Objective: The aim of the present report was to generate DPs through factor analysis (FA) and to examine their association with CAD risk. Methods: Participants (n = 1017) consisted of cases diagnosed with CAD (n = 356) and controls (n = 661) drawn from the THISEAS study. Demographic, anthropometric and lifestyle data were collected. Dietary components were generated through FA. Logistic regression analysis was performed to estimate CAD relative risks. Results: FA generated seven dietary components, explaining 53.5% of the total variation in intake. The Western-type DP showed a modest significant association with CAD risk, after controlling for confounders (OR = 1.20; 95% CI = 1.09–1.32, p < 0.001). The vegetarian-type DP was not significantly associated with the likelihood of CAD (OR = 0.95; 95% CI = 0.84–1.04, p = 0.259). Discussion: The Western-type DP was positively associated with CAD risk and the odds were further increased after controlling for confounders. This finding is in concordance with previously reported positive associations between Western patterns and CAD risk. Limited data exist regarding a posteriori DPs and their effect on CAD risk.
PDF
