Changes in the lipoprotein lipase gene in patients with hypertriglyceridemia

• Grant number: 13/25906-2
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2014
• End date: December 31, 2014
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Alexandre da Costa Pereira
• Grantee: Patricia de Oliveira Cajoeiro
• Host Institution: Instituto do Coração Professor Euryclides de Jesus Zerbini (INCOR). Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil

Abstract

Atherosclerosis is a major risk factor for cardiovascular disease, and these progress contributing to the major strands in causes of death worldwide.High levels of triglycerides are recognized as markers clinical and metabolic conditions such as dyslipidemia, insulin resistance, diabetes and obesity.These factors may be correlated with genetic, increase the risk of atherosclerosis and, consequently, cardiovascular diseases. The objective of this study is to identify genetic alterations in the gene for lipoprotein lipase(LPL), APOC-II and apoA-V that cause hypertriglyceridemia, both Combined Dyslipidemia Family and Family Dyslipidemia Hypertriglyceridemia as Lipoprotein Lipase Deficiency of.Genotypic analysis will be performed by amplification of genomic DNA by polymerase chain reaction (PCR) followed by direct sequencing and sequence analysis in SeqMan (DNASTAR Lasergene). The expected results may reveal associations between elevated triglyceride levels with genetic alterations responsible for hypertriglyceridemia pathogenic. This information can be useful in relation to a correct identification of pathology, contributing both to pharmacological therapy as early cardiovascular disease reduction and improvement of the patient in a very cost-effective public service.