Search results for "fat"

Transmembrane 6 Superfamily Member 2 Gene Variant Disentangles Nonalcoholic Steatohepatitis From Cardiovascular Disease

2015

Excess hepatic storage of triglycerides is considered a benign condition, but nonalcoholic steatohepatitis (NASH) may progress to fibrosis and promote atherosclerosis. Carriers of the TM6SF2 E167K variant have fatty liver as a result of reduced secretion of very-low-density lipoproteins (VLDLs). As a result, they have lower circulating lipids and reduced risk of myocardial infarction. In this study, we aimed to assess whether TM6SF2 E167K affects liver damage and cardiovascular outcomes in subjects at risk of NASH. Liver damage was evaluated in 1,201 patients who underwent liver biopsy for suspected NASH; 427 were evaluated for carotid atherosclerosis. Cardiovascular outcomes were assessed …

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

<i>PCSK9</i> rs11591147 R46L Loss-of-Function Variant Protects Against Liver Damage in Individuals with NAFLD

2020

Background and Aims: The proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in cholesterol homeostasis, and its inhibition represents an effective therapy to lower LDL-C levels. In this study, we examined the impact of PCSK9 rs11591147 loss-of-function (LOF) variant on liver damage in a multicenter collection of patients at risk of nonalcoholic steatohepatitis (NASH), in clinical samples and experimental models. Methods: We considered 1,874 consecutive individuals at risk of NASH as determined by histology. The SNP rs11591147, encoding for the p.R46L variant of PCSK9, was genotyped by TaqMan assays. We also evaluated 1) PCSK9 mRNA hepatic expression in human liver, and 2…

Influence of polyunsaturated fatty acids on Cortisol transport through MDCK and MDCK-MDR1 cells as blood-brain barrier in vitro model.

2011

Abstract Transport across the blood–brain barrier is a relevant factor in the pharmacological action of many drugs and endogenous substances whose action site is located in brain. An overactive P-gp has been suggested to be of relevance for the resistance of the HPA system to be suppressed by glucocorticoids, which is one of the best described biological abnormalities in certain types of depression. PUFA acids have shown clinical efficacy in depressed patients and the hypothesis is that these compounds are able to reduce HPA axis activity as this effect has been shown in animal models of depression. The objective of the present work was (1) to characterize Cortisol transport through MDCK an…

Genetic variants in the MTHFR are not associated with fatty liver disease.

2020

The common missense sequence variants of methylenetetrahydrofolate reductase (MTHFR), rs1801131 (c.A1298C) and rs1801133 (c.C677T), favour the development of hyperhomocysteinemia and diminished DNA methylation. Previous studies, carried out in small series and with suboptimal characterization of the hepatic phenotype, tested the association of these genetic variants with fatty liver disease (FLD), with conflicting results. Here, we assessed the association of rs1801131 and rs1801133 with hepatic phenotype in the Liver Biopsy Cross-Sectional Cohort, a large cohort (n=1375 from Italy and 411 from Finland) of European individuals with suspect FLD associated with dysmetabolism. A total of 1786 …

Brains burning fat: Different forms of energy metabolism in the CNS of insects

1983

Steatohepatitis and type 2 diabetes mellitus are influenced by genetic susceptibility to increased intestinal permeability in patients with non-alcoh…

2017

Leisure-time physical activity and intra-abdominal fat in young adulthood: A monozygotic co-twin control study

2016

Objective To investigate differences in abdominal fat compartments between young adult monozygotic twin pairs discordant for leisure-time physical activity. Methods Ten young adult male monozygotic twin pairs (age range 32-36 years) discordant for leisure-time physical activity during the past 3 years were systematically selected from a population-based Finnish twin cohort. Magnetic resonance image at the level of the L2-L3 intervertebral disc was used to predict intra-abdominal and subcutaneous abdominal fat masses. Dietary intake was assessed with a 4-day food diary. Results Inactive twins had 31% more intra-abdominal fat than their active co-twins (mean difference 0.52 kg, 95% CI 0.12 to…

Consequences of dietary omega-3 polyunsaturated fatty acid deficiency on retinal function and intraocular pressure in the rat

2009

Purpose Omega-3 polyunsaturated fatty acids (ω3) are key components in nervous structures but their dietary intakes in the overall population are often below nutritional requirements. A chronic deficiency in ω3 is recognized to be associated with functional impairment of the retina. At the opposite, ω3 supplementation is associated with a reduced risk for AMD. The consequences of ω3 deficiency on other eye structures than the retina, such as ciliary bodies, are scarce. The purpose of our study was to compare the response of the retina and ciliary bodies to dietary ω3 deficiency in terms of fatty acid profile and eye functionality. Methods Two successive generations of Lewis rats (G1 and G2)…

Dietary polyunsaturated fatty acids, intraocular pressure, and glaucoma

2014

Abstract Glaucoma is a progressive optic neuropathy and is the second leading cause of blindness worldwide. Estimations predict that nearly 80 million people will be affected by the disease in 2020. Increased intraocular pressure (IOP) has been recognized as a major risk factor for developing glaucoma. Although IOP-lowering agents have been shown to be effective for decreasing the progression of glaucoma, extensive research has been done to identify modifiable lifestyle factors involved in the pathogenesis of this disease. Among these factors, dietary lipids and particularly dietary polyunsaturated fatty acids (PUFAs) represent a promising approach. The aim of this chapter is to summarize t…