IP: Dra. Maria Pilar Aluja Paris

Resumen del proyecto: Cardiovascular disease (CVD) is the leading cause of death worldwide, accounting for 30% of total deaths. The distribution of mortality, and sometimes morbidity of CVD in different countries (and within each country or region) may show geographic patterns and inequalities between the studied areas. So far, the population study in relation to CVD has focused on: a) epidemiological studies that include analysis of environmental variables, several vital factors and behaviors related to diet, lifestyle, etc., b) the analysis of nuclear Single Nucleotide Polymorphisms (SNPs), often through a single SNP marker of a particular haplotype ("tag" SNP). However, the role of mtDNA in CVD is still poorly understood (Krzywanski et al. 2011). Presently there are no information concerning the variation expressed by the mitochondrial genome that is relates to CVD. Taking into consideration the theory of the "thrifty genotype", proposed by Neel in 1962, which has a great sense from an adaptive point of view, it is considered that the environmental variables and behaviors related to diet can be tolerated better or worse depending on the individual genetic profile. In this sense, regardless of the nuclear genome, mtDNA may plays a significant role, given the implication of mitochondria in the metabolite oxidation (Krebs cycle and beta-oxidation of fatty acids) and in the obtaining of ATP by oxidative phosphorylation, dependent on the electron transport chain. Thus, our departure hypothesis is that "the mitochondrial genome is involved in CVD risk". This project aims to analyze the genetic variability that determines normality or pathology in relation to genetic risk of cardiovascular disease in a peninsular population, particularly in Castile and Leon. This variability will be studied through complete sequencing of mtDNA and the analysis of nuclear SNPs that have been associated with cardiovascular disease in previous studies. The synergy between the information obtained in both genomes (nuclear and mitochondrial) would improve the results to be obtained.

Entidad financiadora: Universidad Autónoma de Barcelona