B型血友病分子治疗策略的研究进展

Progress on molecular therapeutic strategies for hemophilia B

B型血友病是维生素K依赖蛋白凝血因子Ⅸ(FIX)缺乏导致的一种伴X染色体隐性出血性疾病,其主要由基因突变导致。近年来,随着B型血友病致病突变的机制被逐渐阐明,针对不同致病机制的分子治疗策略也逐渐被关注。该文首先对FIX的分子结构、生物学功能及其在B型血友病的突变类型及数目进行阐述,然后对基于不同基因表达层面设计的针对不同致病机制的分子治疗策略进行综述,这将为B型血友病临床治疗药物的研发提供了新思路,同时,也对B型血友病患者的精准治疗具有重要意义。

Hemophilia B is an X-chromosomal recessive bleeding disorder caused by deficiency of the vitamin K-dependent protein coagulation factor IX(FIX),which is mainly caused by genetic mutations.In recent years,with the mechanism of pathogenic mutations in hemophilia B has been gradually elucidated,molecular therapeutic strategies targeting different pathogenic mechanisms have gradually attracted attention.This review elaborates on the molecular structure,biological function of FIX and the types and number of mutations in hemophilia B,then summarizes the molecular treatment strategies for different pathogenic mechanisms based on different gene expression levels,which provides new insights for the research and development of clinical treatment drugs for hemophilia B,and is also of great significance for the precision treatment of hemophilia B patients.