Search results for "Metabolic disorder"
showing 10 items of 130 documents
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
2020
We previously observed an unexpected fivefold (35 vs. 200 days) difference in the survival of respiratory chain complex III (CIII) deficient Bcs1lp.S78G mice between two congenic backgrounds. Here, we identify a spontaneous homoplasmic mtDNA variant (m.G14904A, mt-Cybp.D254N), affecting the CIII subunit cytochrome b (MT-CYB), in the background with short survival. We utilize maternal inheritance of mtDNA to confirm this as the causative variant and show that it further decreases the low CIII activity in Bcs1lp.S78G tissues to below survival threshold by 35 days of age. Molecular dynamics simulations predict D254N to restrict the flexibility of MT-CYB ef loop, potentially affecting RISP dyna…
Maternal body mass index, gestational weight gain, and the risk of overweight and obesity across childhood: An individual participant data meta-analy…
2019
Background Maternal obesity and excessive gestational weight gain may have persistent effects on offspring fat development. However, it remains unclear whether these effects differ by severity of obesity, and whether these effects are restricted to the extremes of maternal body mass index (BMI) and gestational weight gain. We aimed to assess the separate and combined associations of maternal BMI and gestational weight gain with the risk of overweight/obesity throughout childhood, and their population impact. Methods and findings We conducted an individual participant data meta-analysis of data from 162,129 mothers and their children from 37 pregnancy and birth cohort studies from Europe, No…
Primary hypercholesterolemia and development of cardiovascular disorders: Cellular and molecular mechanisms involved in low-grade systemic inflammati…
2021
Primary hypercholesterolemia, a metabolic disorder characterized by elevated circulating levels of cholesterol products, mainly low-density lipoproteins, is associated with arteriosclerosis development. Cardiovascular disease, predominantly myocardial infarction and stroke, remains the main cause of death worldwide, with atherosclerosis considered to be the most common underlying pathology. In addition to elevated plasma levels of low-density lipoproteins, low-grade systemic inflammation and endothelial dysfunction seem to be the main drivers of premature atherosclerosis. Here we review current knowledge related to cellular and molecular mechanisms involved in low-grade systemic inflammatio…
Effect of a prenatal lifestyle intervention on physical activity level in late pregnancy and the first year postpartum
2017
Background: Despite documented health benefits for mother and baby, physical activity (PA)-level tends to decline in pregnancy. Overweight/obese and physically inactive women are two selected groups at increased risk of pregnancy complications. Thus, efficient strategies to maintain or increase PA-level in pregnancy and the postpartum period, especially among these women, are warranted. This secondary analysis examined the effect of a prenatal lifestyle-intervention on PA-level in late pregnancy and the first year postpartum, with subanalysis on initially physically active versus inactive and normal-weight versus overweight/obese women. Method: The Norwegian Fit for Delivery (NFFD) randomiz…
Imaging of metabolic and overload disorders in tissues and organs
2023
Metabolic and overload disorders are a heterogeneous group of relatively uncommon but important diseases. While imaging plays a key role in the early detection and accurate diagnosis in specific organs with a pivotal role in several metabolic pathways, most of these diseases affect different tissues as part of a systemic syndromes. Moreover, since the symptoms are often vague and phenotypes similar, imaging alterations can present as incidental findings, which must be recognized and interpreted in the light of further biochemical and histological investigations. Among imaging modalities, MRI allows, thanks to its multiparametric properties, to obtain numerous information on tissue compositi…
Effect of simvastatin on desaturase activities in liver from lean and obese zucker rats
1993
The effect of simvastatin, a hypocholesterolemic drug, on the biosynthesis of arachidonic acid was studied in obese and lean Zucker rats. After administration of 2 mg/kg body weight/d for 13 d, delta 6 and delta 5 desaturase activities were measured in liver microsomes at two substrate concentrations. In untreated rats, the delta 6 desaturation rate was similar in the obese and lean rats when measured at saturating substrate levels, whereas delta 5 desaturation was lower in the obese animals. Treatment with simvastatin did not change delta 6 desaturation in either phenotype but increased delta 5 desaturation in obese rats to reach the unchanged rate observed in lean animals. The changes wer…
Mediterranean diet adherence and synergy with acute myocardial infarction and its determinants: A multicenter case-control study in Italy
2018
Background Cardiovascular diseases are the leading causes of mortality and morbidity in Western countries. The possible synergistic effect of poor adherence to a Mediterranean diet (MD) and other risk factors for acute myocardial infarction (AMI) such as hypertension, cholesterol, ever smoker, BMI> 25, diabetes, has not been deeply studied. Design Case-control study. Methods Patients with first AMI and controls from four tertiary referral Italian centers were screened for enrolment. Dietary information was collected through a questionnaire and a MD adherence score was calculated. Physical activity and smoking habits were also registered. The Synergy Index was calculated according to Rothman…
Is quality of life different between diabetic and non-diabetic people? The importance of cardiovascular risks.
2017
BackgroundTo analyse and compare the impact of cardiovascular risk factors and disease on health-related quality of life (HRQoL) in people with and without diabetes living in the community.MethodsWe used data of 1,905 people with diabetes and 19,031 people without diabetes from the last Spanish National Health Survey (years 2011 +/- 2012). The HRQoL instrument used was the EuroQol 5D-5L, based on time trade-off scores. Matching methods were used to assess any differences in the HRQoL in people with and without diabetes with the same characteristics (age, gender, education level, and healthy lifestyle), according to cardiovascular risk factors and diseases. Disparities were also analysed for…
Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease
2014
BACKGROUND AND AIMS: Variant in glucokinase regulatory protein (GCKR), associated with lipid and glucose traits, has been suggested to affect fatty liver infiltration. We aimed to assess whether GCKR rs780094 C-->T SNP influences the expression of steatosis, lobular inflammation and fibrosis in NAFLD patients, after correction for PNPLA3 genotype. METHODS: In 366 consecutive NAFLD patients (197 from Sicily, and 169 from center/northern Italy), we assessed anthropometric, biochemical and metabolic features; liver biopsy was scored according to Kleiner. PNPLA3 rs738409 C>G and GCKR rs780094 C>T single nucleotide polymorphisms were also assessed. RESULTS: At multivariate logistic regression an…
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients
2016
The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Porhobilinogen…