Resumo

ARRAIZ RODRIGUEZ, Nailet. Alteraciones en genes del metabolismo lipídico y enfermedad cardiovascular. AVFT [online]. 2007, vol.26, n.1, pp.1-9. ISSN 0798-0264.

The cardiovascular diseases (CVD) is one of the main leading causes of death worldwide. The observation documented of familial predisposition to suffer CVD, combined with vertiginous advance in DNA analysis techniques and the availability of human genome sequences, has led  to the investigation of genetic alterations related to development of ECV. Because the ECV directly is related to alterations in the plasma lipid levels, the main effort in genetic investigation of ECV is directed to the identification of mutations or polymorphisms in genes involved in lipoprotein synthesis, transport and metabolism. The alterations in some genes candidates, such as LDLR, APOB-100, APOE, LPA, LPL, HL, CETP, APOA1, APOA2 and LCAT have been well characterized, demonstrating its association to risk ECV in different  populations. The genetic studies not only  allow to define the contribution of  genes alterations in  the development of the ECV phenotype, but also to improve the understanding of their physiopatology and to define new alternatives of treatment of the cardiovascular disease through the identification of new molecules and possible therapeutic targets.

Palavras-chave : cardiovascular disease; gene; mutations; polymorphisms; hypercholesterolaemia.