Molekulare Varianten des Fibrinogens

Zusammenfassung

Im letzten Schritt der Blutgerinnung lagern sich Fibrinmonomere aneinander und werden durch Faktor XIIIa kovalent verbunden. Mutationen in einem der drei Gene, die für die Fibrinogenpeptide kodieren, können diesen Prozess stören und zu Afibrinogenämie oder Dysfibrinogenämie führen. Sie können sogar Ursache der hereditären renalen Amyloidose sein. In dieser kurzen Übersicht beschreiben wir einige molekulare Aspekte dieser Erkrankungen.

Summary

In the final step of blood coagulation, fibrin monomers polymerize spontaneously and are covalently linked by factor XIIIa. Mutations in one of the three genes coding for the fibrinogen peptides may disturb this process and lead to diseases such as afibrinogenemia or dysfibrinogenemia, or may even cause hereditary renal amyloidosis. In the brief overview presented here we summarize some of the molecular aspects of these diseases.

Schlüsselwörter

Dysfibrinogenämie - Afibrinogenämie - renale Amyloidose - Molekulargenetik - Mutation

Keywords

Dysfibrinogenemia - afibrinogenemia - renal amyloidosis - molecular genetics - mutation

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