1型神经纤维瘤病(neurofibromatosis type 1,NF1)是常见的常染色体显性遗传病之一.该疾病由NF1基因突变所引起,可累及多个系统,具有多种临床表现,包括牛奶咖啡斑、虹膜结节、神经胶质瘤、孤独症谱系障碍、学习困难、神经纤维瘤和骨骼发育不良等.既往在NF1发病机制的研究中,多聚焦在神经纤维蛋白调控RAS信号通路.近年来,研究者开始探索除RAS信号之外的通路,挖掘神经纤维蛋白潜在功能.该文就近年来对NF1发病机制的研究进展进行综述,旨在为治疗提供新思路.
Progress on the pathogenesis of neurofibromatosis type 1
Neurofibromatosis type 1(NF1)is one of the most common autosomal dominant disorders.The disease is caused by mutations in the NF1 gene,which can involve multiple systems and have a variety of clinical manifestations,including café au lait macules,lisch nodules,neuroglioma,autism spectrum disorder,learning difficulties,neurofibromas,and skeletal dysplasia,et al.In previous studies on the pathogenesis of NF1,most of them have focused on the regulation of the RAS signaling pathway by neurofibromin.In recent years,researchers start exploring pathways other than RAS signaling to explore the potential functions of neurofibromin.This article reviews the research progress on the pathogenesis of NF1 in recent years,aiming to provide new ideas for treatment.
Neurofibromatosis type 1PathogenesisNeurofibrominTreatment
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