The glutamate system including N-methyl-d-aspartate (NMDA) affects synaptic formation, plasticity and maintenance. Recent studies have shown a variable (GT)n polymorphism in the promoter region of the NMDA subunit gene (GRIN2A) and a length-dependent inhibition of transcriptional activity by the (GT)n repeat. In the present study, we examined whether the GRIN2A polymorphism is associated with r...

Congenital deficiency in coagulation factor XIII is a rare autosomal recessive bleeding disorder. Although the defect was characterized over 30 years ago, little is known about the molecular basis of the disorder. Here, we show two novel point mutations in the gene of the A-subunit of factor XIII in the genetically isolated population of Finland. All eight factor XIII-deficient families identif...

FXIII, also called fibrin-stabilising factor [1] , is a transglutaminase composed of two A subunits and two B subunits circulating in plasma as a tetramer (A2B2) (Figure 1). FXIII plays an important role in clot stabilisation by cross-linking fibrin chains [2] after activation by thrombin (Figure 1). In addition, a number of other proteins are substrates for activated FXIII, such as α2-antiplas...

It has been suggested that a G-to-T transition in exon 2 of the factor XIIIA gene resulting in a substitution of leucine for valine at amino acid 34 (FXIII Val34Leu) protects against venous thromboembolism (VTE). However, the evidence to date is insufficient to incorporate testing for the FXIII Val34Leu variant into clinical practice. To determine whether genotypes with the FXIII Val34Leu varia...

Coagulation factor XIII (FXIII) is converted by thrombin and Ca(2+) into an active transglutaminase (FXIIIa) in the final phase of coagulation cascade. Its main function is the mechanical stabilization of fibrin clot and its protection from fibrinolysis by cross-linking of fibrin chains and α(2)-plasmin inhibitor to fibrin. In non-substituted patients FXIII deficiency is a severe hemorrhagic di...

BACKGROUND Activated factor XIII (FXIIIa), a transglutaminase, introduces fibrin-fibrin and fibrin-inhibitor cross-links, resulting in more mechanically stable clots. The impact of cross-linking on resistance to fibrinolysis has proved challenging to evaluate quantitatively. METHODS We used a whole blood model thrombus system to characterize the role of cross-linking in resistance to fibrinol...

Background: Acquired factor XIII (FXIII) deficiency is associated with reduced clot firmness and increased bleeding in patients undergoing major surgery. In contrast, only limited information is available on the haemo static relevance of acquired FXIII deficiency in non-surgical patients. Case report: An 81-year-old patient, who had experienced acute type-A dissection of the aorta eight years e...

SUMMARY Congenital factor XIII (FXIII) deficiency is an extremely rare, yet potentially life-threatening, bleeding disorder, with a 30% rate of spontaneous intracranial haemorrhage. Routine prophylactic management is recommended for all individuals with clinically relevant (FXIII) deficiency and for all symptomatic individuals with congenital factor deficiency. Fibrogammin P is a purified, past...

Unlike in mammals, fish retinal ganglion cells (RGCs) have a capacity to repair their axons even after optic nerve transection. In our previous study, we isolated a tissue type transglutaminase (TG) from axotomized goldfish retina. The levels of retinal TG (TG(R)) mRNA increased in RGCs 1-6weeks after nerve injury to promote optic nerve regeneration both in vitro and in vivo. In the present stu...

BACKGROUND Several epidemiological studies have illustrated that polymorphisms in interleukin-2 (IL-2) were associated with diverse cancer types. However, recently published statistics were inconsistent and inconclusive. Therefore, the current meta-analysis was performed to elaborate the effects of IL-2 polymorphisms (rs2069762 and rs2069763) on cancer susceptibility. MATERIAL AND METHODS A t...