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Coutinho M.F.,Grupo de Investigacao em Doencas Lisossomais de Sobrecarga | Coutinho M.F.,University of Porto | Bourbon M.,Grupo de Investigacao Cardiovascular | Prata M.J.,IPATIMUP | And 2 more authors.
Revista Portuguesa de Cardiologia | Year: 2013

Plasma low-density lipoprotein cholesterol (LDL-C) levels are a key determinant ofthe risk of cardiovascular disease, which is why many studies have attempted to elucidate thepathways that regulate its metabolism. Novel latest-generation sequencing techniques haveidentified a strong association between the 1p13 locus and the risk of cardiovascular diseasecaused by changes in plasma LDL-C levels. As expected for a complex phenotype, the effectsof variation in this locus are only moderate. Even so, knowledge of the association is of majorimportance, since it has unveiled a new metabolic pathway regulating plasma cholesterol levels. Crucial to this discovery was the work of three independent teams seeking to clarify the bio-logical basis of this association, who succeeded in proving that SORT1, encoding sortilin, wasthe gene in the 1p13 locus involved in LDL metabolism. SORT1 was the first gene identifiedas determining plasma LDL levels to be mechanistically evaluated and, although the threeteams used different, though appropriate, experimental methods, their results were in someways contradictory. Here we review all the experiments that led to the identification of thenew pathway connecting sortilin with plasma LDL levels and risk of myocardial infarction. Theregulatory mechanism underlying this association remains unclear, but its discovery has pavedthe way for considering previously unsuspected therapeutic targets and approaches. © 2012 Sociedade Portuguesa de Cardiologia. All rights reserved.


Rocha T.,Institute Medicina Preventiva | Rocha E.,Institute Medicina Preventiva | Alves A.C.,Grupo de Investigacao Cardiovascular | Medeiros A.M.,Grupo de Investigacao Cardiovascular | And 5 more authors.
Revista Portuguesa de Cardiologia | Year: 2014

Introduction Disease prevention should begin in childhood and lifestyles are important risk determinants of cardiovascular disease. Awareness and monitoring of risk is essential in preventive strategies. Aim To characterize cardiovascular risk and the relationships between certain variables in adolescents. ;copy; 2013 Sociedade Portuguesa de Cardiologia.Methods In a cross-sectional study, 854 adolescent schoolchildren were surveyed, mean age 16.3±0.9 years. Data collection included questionnaires, physical examination, charts for 10-year relative risk of mortality, and biochemical assays. In the statistical analysis continuous variables were studied by the Student's t test and categorical variables by the chi-square test and Fisher's exact test, and each risk factor was entered as a dependent variable in logistic regression analysis.Results Physical activity was insufficient in 81% of students. The daily consumption of soup, salad or vegetables, and fruit was, respectively, 37%, 39% and 21%. A minority (6%) took 3 and 77% took ≥5 meals a day. The prevalence of each risk factor was as follows: overweight 16%; smoking 13%; hypertension 11%; impaired glucose metabolism 9%; hypertriglyceridemia 9%; and hypercholesterolemia 5%. Out-of-school physical activity, hypertension and overweight were more prevalent in males (p0.001). Females had higher levels of cholesterol (p0.005) and triglycerides (p0.001). A quarter of the adolescents had a relative risk score for 10-year cardiovascular mortality of ≥2. Overweight showed a positive association with blood pressure, changes in glucose metabolism and triglycerides, and a negative association with number of daily meals.Conclusions The results demonstrate the need for action in providing and encouraging healthy choices for adolescents, with an emphasis on behavioral and lifestyle changes aimed at individuals, families and communities.

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