DETECTION OF MUTATIONS IN ACTA2 AND MYH11 FOR ASSESSING RISK OF VASCULAR DISEASE

摘要

A method of detecting in an individual an increased risk of hyperplastic vasculomyopathy, or a vascular disease resulting therefrom is disclosed. The method comprises obtaining a DNA genome sample from the individual and detecting in the sample a missense mutation in a gene which is a component of a smooth muscle cell contractile unit. In some embodiments the gene is ACTA2 and in some embodiments the gene is MYH11. In some embodiments, the gene is sequenced and then compared to a panel of control gene sequences which are representative of the same gene in individuals without vascular disease or who are at low risk of developing hyperplastic vasculomyopathy, to detect any missense mutations in the gene. The presence of a missense mutation in the gene indicates an increased risk of hyperplastic vasculomyopathy.