Genetic and epigenetic aspects in cardio-vascular disease and ageing

Cardiovascular disease represents a major cause of mortality worldwide but the genetic and epigenetic mechanisms involved are not entirely known. Atherosclerosis plays a major role, often leading to ischemic heart disease and stroke. Many studies linked the evolution of atherosclerosis with genetic factors but only a small number of them are well characterized. Our study aimed to find an association between TIMP-I (tissue inhibitors of metalloproteinases) and ESR alpha (estrogen receptor alpha) genes methylation and the polymorphisms of MTHFR (5,10-methylenetetrahydrofolate reductase) in cardio-vascular disease (CVD) and ageing. Two groups were studied: case group - 37 old patients with cardiovascular conditions and a control group - 25 young/normal subjects. The methods used for genetic and epigenetic investigations were MS-PCR (Methylation Specific Polymerase Chained Reaction) and PCR-RFLP (restriction fragment length polymorphism). In the case group. we found a higher degree of methylation of the two studied genes as well as a larger percentage of MTHFR polymorphisms. A good association between these conditions and CVD/ageing was found.