title: Elevated levels of soluble thrombomodulin in plasma from children with Arg 506 to Gln mutation in the factor V gene.
abstract: To find out to what extent the Arg506 to Gln mutation in the factor V gene affects the defence system against thromboembolism we investigated soluble thrombomodulin, protein C, protein S along with thrombin generation and D-dimer formation in 188 children. Children with the Arg506 to Gln mutation in the factor V gene (n = 48) showed significantly elevated thrombomodulin concentrations compared to nonaffected brothers and sisters (n = 50; p = 0.001) and age-matched healthy controls (n = 90; p < 0.0001). In addition, thrombin generation and D-dimer formation were significantly elevated in children with the mutation. In contrast, protein C and total protein S antigen levels were no different in the populations tested. Thus, with respect to thrombomodulin being a potent inhibitor of coagulation activation, the present data might be interpreted as a counterregulatory mechanism in infants and children with the Arg506 to Gln mutation in the factor V gene, maintaining the coagulation balance. The role of TM and other proteins involved in the coagulation balance in children and adults homozygous for the Arg506 to Gln mutation in the factor V gene remains to be clarified.
authors.affiliation: Department of Paediatrics, University Hospital, Münster, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Nowak-Göttl
authors.forename: H
authors.initials: H
authors.lastname: Vielhaber
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine / Q000235:genetics; D001777:Blood Coagulation / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017354:Point Mutation; D018180:Thrombomodulin / Q000097:blood*
chemical_list: D018180:Thrombomodulin; D005165:Factor V; D001120:Arginine; D005998:Glycine