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[Molecular basis of thrombosis]
1Service d'Angiohématologie Clinique, IVS, Hôpital Lariboisière, Paris.
Tremendous progress have been performed during the last 25 years in thrombosis. Thrombotic disease can result either from increased deposition or decreased dissolution of fibrin. Since the first observation of a familial antithrombin III deficiency, numerous inherited defects of antithrombotin III, protein C, protein S, heparin cofactor II and plasminogen have been described and were assumed to be responsible of a thrombophilic state. However a disparity in the clinical expression of heterozygous deficiency in coagulation inhibitors or molecular abnormalities of coagulation does exist. On one hand, the prevalence of such molecular diseases is not yet perfectly known and on the other hand, contributory factors (acquired environmental insults or other genetic abnormalities) could play a role in individuals already predisposed to thrombosis. The molecular genetics of deficiencies is going to help us to establish specific gene lesions and thromboembolic history relationships. The analysis of structural or regulatory mutations in the genes of the different coagulation inhibitors, of the molecules of the fibrinolytic system, and of the fibrinogen molecule will greatly increase our knowledge of the molecular basis of thrombosis. The influence of the genetic polymorphism of these molecules on the risk of thrombosis should be studied. Finally, cellular aspects of thrombosis including the role of blood cells and endothelial cells will bring lot of informations on the comprehension of thrombotic diseases.
Tremendous progress have been performed during the last 25 years in thrombosis. Thrombotic disease can result either from increased deposition or decreased dissolution of fibrin. Since the first observation of a familial antithrombin III deficiency, numerous inherited defects of antithrombotin III, protein C, protein S, heparin cofactor II and plasminogen have been described and were assumed to be responsible of a thrombophilic state. However a disparity in the clinical expression of heterozygous deficiency in coagulation inhibitors or molecular abnormalities of coagulation does exist. On one hand, the prevalence of such molecular diseases is not yet perfectly known and on the other hand, contributory factors (acquired environmental insults or other genetic abnormalities) could play a role in individuals already predisposed to thrombosis. The molecular genetics of deficiencies is going to help us to establish specific gene lesions and thromboembolic history relationships. The analysis of structural or regulatory mutations in the genes of the different coagulation inhibitors, of the molecules of the fibrinolytic system, and of the fibrinogen molecule will greatly increase our knowledge of the molecular basis of thrombosis. The influence of the genetic polymorphism of these molecules on the risk of thrombosis should be studied. Finally, cellular aspects of thrombosis including the role of blood cells and endothelial cells will bring lot of informations on the comprehension of thrombotic diseases.