神经纤维瘤病1型和2型的遗传与分子发病机制。

The genetic and molecular pathogenesis of NF1 and NF2.

作者信息

Yohay Kaleb H

机构信息

Division of Child Neurology and Pediatrics, Johns Hopkins University, Baltimore, MD 21287, USA.

出版信息

Semin Pediatr Neurol. 2006 Mar;13(1):21-6. doi: 10.1016/j.spen.2006.01.007.

DOI:10.1016/j.spen.2006.01.007

PMID:16818172

Abstract

Neurofibromatosis types 1 and 2 (NF1 and NF2) are autosomal dominant phakomatoses. The NF1 and NF2 genes encode for neurofibromin and merlin, respectively. These 2 functionally unrelated proteins both act as tumor suppressor genes, possibly through modulation of the RAS/RAC oncogenic pathways. Improved understanding of the mechanisms by which these tumor suppressors act may allow for medical therapies for neurofibromatosis and may offer insights for cancer therapeutics.

摘要

1型和2型神经纤维瘤病（NF1和NF2）是常染色体显性遗传的错构瘤病。NF1和NF2基因分别编码神经纤维瘤蛋白和墨林蛋白。这两种功能不相关的蛋白质均作为肿瘤抑制基因发挥作用，可能是通过调节RAS/RAC致癌途径来实现的。对这些肿瘤抑制因子作用机制的深入了解可能会带来针对神经纤维瘤病的医学治疗方法，并为癌症治疗提供思路。