Abstract:
Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS). The current treatment options for NF2-related schwannomatosis, such as observation with serial imaging, surgery, radiotherapy, and pharmacotherapies, have shown limited effectiveness and serious complications. Therefore, there is a critical demand for novel effective treatments. Gene therapy, which has made significant advancements in treating genetic diseases, holds promise for the treatment of this disease. This review covers the genetic pathogenesis of NF2-related schwannomatosis, the latest progress in gene therapy strategies, current challenges, and future directions of gene therapy for NF2-related schwannomatosis.
摘要:
2型神经纤维瘤病(NF2)相关神经鞘瘤病是一种罕见的常染色体显性遗传单基因疾病,由NF2基因突变引起。NF2相关神经鞘瘤病的标志是双侧前庭神经鞘瘤(VS)。目前NF2相关神经鞘瘤病的治疗选择,如连续成像观察,手术,放射治疗,和药物疗法,已显示出有限的有效性和严重的并发症。因此,对新的有效治疗方法有关键的需求。基因治疗,在治疗遗传疾病方面取得了重大进展,有望治疗这种疾病。本文综述了NF2相关神经鞘瘤病的遗传发病机制。基因治疗策略的最新进展,当前的挑战,以及NF2相关神经鞘瘤病基因治疗的未来方向。