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Varicose Veins and Genetic Research: New Methods of Identifying Risks Varicose veins, thrombosis, and other debilitating vascular disorders are among the most complex illnesses that challenge modern medical science. Many of the symptoms associated with vascular problems affect the quality of life of the elderly and pose additional health risks, too. As the population ages, the importance of identifying individuals or groups at risk for these vascular diseases and beginning a course of therapeutic intervention as early as possible has increased dramatically. Modern genetic research shows a great deal of promise in this area. A French research team, headed by Dr. Lena Le Flem, has recently conducted a study focusing on the thrombodulin (TM) gene. This gene, which is located on chromosome 20, has been identified as being a significant contributor to the biochemical processes of hemostasis regulation and fibrinolysis regulation. Dr. Le Flem and her associates believed that genetic anomalies are correlated to the onset of varicose veins and the like and, as such, could be used to identify individuals who have an increased risk of developing vascular problems. Le Flem's team selected 725 individuals of both genders who were less than 61 years of age. Of these, 398 were in the control group and 327 were patients who had previously been diagnosed with a venous disorder and who also exhibited varicose veins. DNA samples were then collected and analyzed with particular attention being given to the TM gene. Mutations of the gene were identified using a technique known as restriction site analysis, The study found that eight identifiable mutations affected the TM gene. One of these mutations exhibited a clear association with the occurrence of varicose veins in the test subjects. The significance of this finding is that, for the first time, heredity can be considered in determining whether an individual is at risk for developing these conditions. Although the theory that vascular disorders might be caused by genetic deficiencies had been discussed in medical and scientific circles for some time, these results actually supplied data to support the concept. Future clinical trials will be needed to identify other genetic markers that can assist in the development of new diagnostic protocols. As the biomechanics of these conditions are better understood, medical science may develop new therapies that help control the disease or even reverse or repair some of the damage it may have caused. For those individuals who must face the consequences of venous problems, these findings offer new hope. Resource LeFlem, L,, Mennen, L., Aubry, M., Aiach, M., Scarabin, P., Emmerich, J., & Gelas, M. (2001). Thrombomodulin promoter mutations, venous thrombosis and varicose veins. Ateriosclerosis, Thrombosis and Vascular Biology,21(445).

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