Department of Physiology, The University of Tennessee, Health Science Center, Memphis, TN 38163, USA.
Hum Mol Genet. 2012 Dec 1;21(23):5078-90. doi: 10.1093/hmg/dds354. Epub 2012 Aug 24.
Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of the sensory and autonomic nervous systems and is inevitably fatal, with only 50% of patients reaching the age of 40. FD is caused by a mutation in intron 20 of the Ikbkap gene that results in severe reduction in the expression of its encoded protein, inhibitor of kappaB kinase complex-associated protein (IKAP). Although the mutation that causes FD was identified in 2001, so far there is no appropriate animal model that recapitulates the disorder. Here, we report the generation and characterization of the first mouse models for FD that recapitulate the molecular and pathological features of the disease. Important for therapeutic interventions is also our finding that a slight increase in IKAP levels is enough to ameliorate the phenotype and increase the life span. Understanding the mechanisms underlying FD will provide insights for potential new therapeutic interventions not only for FD, but also for other peripheral neuropathies.
遗传性感觉和自主神经病(HSANs)包括一组以感觉和自主功能障碍为特征的遗传性疾病。家族性自主神经异常(FD),也称为 HSAN 型 III,是一种常染色体隐性遗传病,在阿什肯纳兹犹太人中每 3600 例活产中就有 1 例。这种疾病是由感觉和自主神经系统的异常发育和进行性退化引起的,不可避免地会导致死亡,只有 50%的患者能活到 40 岁。FD 是由 Ikbkap 基因内含子 20 中的突变引起的,导致其编码蛋白,κB 激酶复合物相关蛋白(IKAP)的表达严重减少。尽管导致 FD 的突变于 2001 年被鉴定出来,但到目前为止,还没有合适的动物模型可以重现这种疾病。在这里,我们报告了第一个 FD 小鼠模型的产生和特征,这些模型重现了疾病的分子和病理特征。对治疗干预很重要的是,我们还发现 IKAP 水平的轻微增加足以改善表型并延长寿命。了解 FD 的发病机制不仅为 FD 提供了新的治疗干预的潜在靶点,也为其他周围神经病提供了新的治疗干预的潜在靶点。