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001-es BibID:	BIBFORM019249
Első szerző:	Gézsi András
Cím:	Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza / A. Gézsi, U. Budde, I. Deák, E. Nagy, A. Mohl, Á. Schlammadinger, Z. Boda, T. Masszi, J. E. Sadler, I. Bodó
Dátum:	2010
Megjegyzések:	von Willebrand disease (VWD) Vicenza is characterized by low plasma von Willebrand factor (VWF) levels, the presence of ultra-large (UL) VWF multimersand less prominent satellite bands on multimer gels, and the heterozygous amino acid substitution R1205H in the VWFgene. The pathogenesis of VWD Vicenza has been elusive.Accelerated clearance is implicated as a cause of low VWF level. Objectives: We addressed the question, whether the presence of ultra-large multimers is a cause, or a result of accelerated VWF clearance, or whether it is an unrelated phenomenon. Patients/methods: We studied the detailed phenotype of three Hungarian patients with VWD Vicenza, expressed the mutant VWFR1205H in 293T cells and developed a mathematical model to simulate VWF synthesis and catabolism. Results: We found that the half-life of VWF after DDAVP was approximately one tenth of that after the administration of Haemate P, a source of exogenous wild-type (WT) VWF (0.81 ? 0.2 vs. 7.25 ? 2.38 h). An analysis of recombinant mutant VWF-R1205H showed that the biosynthesis and multimer structure ofWT and mutant VWF were indistinguishable. A mathematical model of the complex interplay of VWF synthesis, clearance and cleavageshowed that decreasing VWF half-life to one-tenth of normalreproduced all features of VWD Vicenza including low VWFlevel, ultra-large multimers and a decrease of satellite band intensity. Conclusion: We conclude that accelerated clearance alone may explain all features of VWD Vicenza.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban clearance von Willebrand disease von Willebrand factor
Megjelenés:	Journal of Thrombosis and Haemostasis. - 8 : 6 (2010), p. 1273-1280. -
További szerzők:	Budde, U. Deák Ivett Nagy E. Mohl, A. Schlammadinger Ágota (1971-) (belgyógyász, haematológus) Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Masszi Tamás Sadler, J. E. Bodó I.
Internet cím:	DOI Intézményi repozitóriumban (DEA) tárolt változat
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