Pilar Durruty

II Consenso de la Sociedad Chilena de Endocrinología y Diabetes sobre resistencia a la insulina

Insulin resistance is a prevalent condition commonly associated with unhealthy lifestyles. It affects several metabolic pathways, increasing risk of abnormalities at different organ levels. Thus, diverse medical specialties should be involved in its diagnosis and treatment. With the purpose of unifying criteria about this condition, a scientific-based consensus was elaborated. A questionnaire including the most important topics such as cardio-metabolic risk, non-alcoholic fatty liver disease and polycystic ovary syndrome, was designed and sent to national experts. When no agreement among them was achieved, the Delphi methodology was applied. The main conclusions reached are that clinical findings are critical for the diagnosis of insulin resistance, not being necessary blood testing. Acquisition of a healthy lifestyle is the most important therapeutic tool. Insulin-sensitizing drugs should be prescribed to individuals at high risk of disease according to clinically validated outcomes. There are specific recommendations for pregnant women, children, adolescents and older people.Insulin resistance is a prevalent condition commonly associated with unhealthy lifestyles. It affects several metabolic pathways, increasing risk of abnormalities at different organ levels. Thus, diverse medical specialties should be involved in its diagnosis and treatment. With the purpose of unifying criteria about this condition, a scientific-based consensus was elaborated. A questionnaire including the most important topics such as cardio-metabolic risk, non-alcoholic fatty liver disease and polycystic ovary syndrome, was designed and sent to national experts. When no agreement among them was achieved, the Delphi methodology was applied. The main conclusions reached are that clinical findings are critical for the diagnosis of insulin resistance, not being necessary blood testing. Acquisition of a healthy lifestyle is the most important therapeutic tool. Insulin-sensitizing drugs should be prescribed to individuals at high risk of disease according to clinically validated outcomes. There are specific recommendations for pregnant women, children, adolescents and older people.

Analysis of the intronic single nucleotide polymorphism rs#466452 of the nephrin gene in patients with diabetic nephropathy

We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. The frequency of the single nucleotide polymorphism rs#466452 in the nephrin gene was determined in 231 patients and control subjects. The C/T status of the polymorphism was assessed using restriction enzyme digestions and the nephrin transcript from a kidney biopsy was examined. Association between the polymorphism and clinical parameters was evaluated using multivariate correspondence analysis. A bioinformatics analysis of the single nucleotide polymorphism rs#466452 suggested the appearance of a splicing enhancer sequence in intron 24 of the nephrin gene and a modification of proteins that bind to this sequence. However, no change in the splicing of a nephrin transcript from a renal biopsy was found. No association was found between the polymorphism and diabetes or degree of renal damage in diabetes type 1 or 2 patients. The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site.

A pilot study on genetic variation in purine-rich elements in the nephrin gene promoter in type 2 diabetic patients

Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter region of 100 individuals and found no genetic variants in the purine-rich GAGA-box of the nephrin gene promoter between groups of patients with diabetes type 2 with and without renal and coronary complications, control patients without diabetes and healthy controls.

Genetics of Endothelial Damage Associated to Diabetes Mellitus Type 2

Diabetes mellitus (DM) is a serious worldwide public health problem due to its frequency, chronic complications and their high associated costs. This disease is considered a multifactorial pathology that involves insulin resistance and is associated to obesity, dyslipidemia, endothelial dysfunction, inflammation and hypertension (Petersen & Shulman, 2006). Type 2 diabetes (DM2) is one of the most common diseases in the developed world and is recognized now as a global burden (van Dieren et al., 2010). Released in 2000, the initial edition of the Diabetes Atlas estimated the global prevalence of this disease at 4.6%, representing 151 million people, and projected an increase to 333 million people by 2025. On the basis of the most recent evidence, the current Diabetes Atlas has predicted that the number of people with diabetes will have risen to a staggering 438 million or 7.8% of the world`s population in 2030 (Colagiuri, 2010; www.diabetesatlas.org). The development of DM2 requires the involvement of genetic and environmental factors such as android obesity and sedentary lifestyle that determine hyposecretion of insulin in response to glucose stimulation and a decreased insulin action in peripheral tissues. Most of the complications associated to DM2 are related to pathophysiological alterations of the vascular endothelium, and are the main cause of morbidity and mortality among DM patients. Endothelial dysfunction is the initial event that predisposes the vascular wall to diverse alterations leading to the establishment of so-called cardiovascular complications of diabetes. Known risk factors of diabetic complications such as hyperglycemia, hypertension and dyslipidemia stimulate the production of reactive oxygen species (ROS) in the vascular wall. Hyperglycemia is now considered a key causal factor in the development of chronic complications of diabetes (Giuliano et al., 2008). The vascular endothelium consists of endothelial cells and is a type of monostratified squamous epithelium that lines the inner surface of all blood vessels including the heart. Its crucial role is to regulate the vascular tone and it also has a structural function. In addition, the vascular endothelium normally inhibits platelet and leukocyte adhesion to the vascular surface and maintains a balance between profibrinolytic and prothrombotic activities

Control and Prevention of Obesity and Diabetes Type 2 Through Non-Pharmacological Treatments Based on Marine Products

Obesity is currently considered as the pandemic of the 21st century and is paradigmatic of non-transmissible chronic diseases, such as type 2 diabetes mellitus (DM2), cardiovascular disease and cancer. Thus, due to its extent, obesity is considered a public health problem that is constantly growing and globally affects both the developed world and developing countries (WHO Prevalence of Diabetes, 2010). In the United States of America (USA) over 30% of the adult population is obese, the numbers in Europe are between 15 and 20 % and in Chile, with a GDP close to

Glucotoxicidad y lipotoxicidad: factores en la patogénesis y evolución de la diabetes tipo 2

US 20,000 per year, the National Health Survey (Encuesta Nacional de Salud, ENS) of 2010, showed a total prevalence of obesity of 27.4 %, very similar to industrialized countries (ENS, 2010).