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Results for “Factor XIII Deficiency”

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PubMed1998

Arg260-Cys mutation in severe factor XIII deficiency: conformational change of the A subunit is predicted by molecular modelling and mechanics.

To explore the implications of the structure/ function relationships in factor XIII. a patient with severe A subunit deficiency was examined at the DNA and RNA levels. Nucleotide sequence analysis of the patient's DNA amplified by PCR revealed that the patient had a replacement of C by T in the codon for Arg260. RT-PCR analysis demonstrated that only one kind of mRNA coding for the Arg260-Cys mutation was expressed in the patient at a normal level. Another possible defective allele of the A subunit gene with a G-A polymorphism was not expressed (null allele). The substitution of Arg260 by Cys located on the interface of two A subunits would preclude the reciprocal ionic interaction (salt bridge) between Arg260 and Asp404. Molecular modelling and, for the first time, molecular mechanics calculated that Cys260 changed the local conformation of the A subunit and reduced the electrostatic interaction between two monomers, suggesting destabilization of the molecule's dimer.

Amino Acid Substitution↗
PubMed1987

[Detection of factor XIII deficiency in acute leukemia with resonance thrombography].

In 16 patients affected with acute leukemia (7 patients with acute lymphatic leukemia and 9 patients with acute myeloid leukemia) the resonance thrombogramme was recorded during cytostatic induction therapy, coagulation factor XIII (subunit XIII-A, XIII-S) and further hemostasiological parameters were determined. Subunit XIII-A was lowered to 36%, subunit XIII-S to 65% and the fibrin formation time of the resonance thrombogramme was extended to 9 minutes. There exists a negative correlation between component XIII-A and fibrin formation time r = -0.48 (p less than 0.01). The influence exerted by diminishing factor XIII and fibrin(ogen) splitting products on the fibrin formation time was investigated in in-vitro tests. A diminution of factor XIII below 10% will extend the fibrin formation time to about 10 minutes, an increase of fibrin(ogen) splitting products to 100 micrograms/ml to about 3 minutes.

Adult↗