凝血因子VIII的分子缺陷及其对因子VIII功能的影响。

Molecular defects in coagulation Factor VIII and their impact on Factor VIII function.

作者信息

Saenko E L, Ananyeva N, Kouiavskaia D, Schwinn H, Josic D, Shima M, Hauser C A E, Pipe S

机构信息

J. Holland Laboratory, American Red Cross, 15601 Crabbs Branch Way, Rockville, MD 20855, USA.

出版信息

Vox Sang. 2002 Aug;83(2):89-96. doi: 10.1046/j.1423-0410.2002.00183.x.

DOI:10.1046/j.1423-0410.2002.00183.x

PMID:12201837

Abstract

Molecular defects in Factor VIII (FVIII), such as haemophilia A-related mutations or denaturative conformational changes, may affect the stability of FVIII as well as its interactions with physiological activators, von Willebrand Factor, phospholipid, or conformationally sensitive antibodies. We summarize the contemporary assays which allow identification of impaired functional interactions of FVIII that cause a reduction or loss of its cofactor activity and/or increased immunogenicity. These assays can potentially be used for detection of molecular defects in FVIII and elucidation of the function impaired by these defects.

摘要

凝血因子 VIII（FVIII）中的分子缺陷，如与A型血友病相关的突变或变性构象变化，可能会影响FVIII的稳定性及其与生理激活剂、血管性血友病因子、磷脂或构象敏感抗体的相互作用。我们总结了当代的检测方法，这些方法能够识别导致FVIII辅助因子活性降低或丧失和/或免疫原性增加的功能相互作用受损情况。这些检测方法有可能用于检测FVIII中的分子缺陷，并阐明这些缺陷所损害的功能。