Smelling the roses and seeing the light: gene therapy for ciliopathies.
Smelling the roses and seeing the light: gene therapy for ciliopathies.
复制标题
闻玫瑰香，见光明：纤毛病的基因疗法。
DOI：
10.1016/j.tibtech.2013.03.005
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发表时间：
2013
影响因子：
17.3
通讯作者：
Martens,JeffreyR
中科院分区：
文献类型：
--
作者：
McIntyre,JeremyC;Williams,CoreyL;Martens,JeffreyR
纤毛形成或功能的改变是一类不断增长的多效性疾病（称为纤毛病）的基础。纤毛病的遗传基础非常复杂，有一个不完整但不断扩大的列表，其中包含超过 89 个与各种疾病有关的基因座。目前纤毛病的治疗仅限于对症治疗。然而，我们对纤毛病遗传学的了解不断加深，加上迄今为止在眼睛、鼻子和气道组织中所证明的基因传递以及内源基因和转录修复方面的最新进展，为在不久的将来采取治疗措施带来了希望。这篇综述强调了这些进展，以及用于治疗渗透到多种器官系统的非常复杂的疾病谱的个性化医疗的发展中仍然存在的挑战。
Alterations in cilia formation or function underlie a growing class of pleiotropic disorders termed ciliopathies. The genetic basis of ciliopathies is remarkably complex, with an incomplete but expanding list of more than 89 loci implicated in various disorders. Current treatment of ciliopathies is limited to symptomatic therapy. However, our growing understanding of ciliopathy genetics, coupled with recent advances in gene delivery and endogenous gene and transcript repair demonstrated thus far in tissues of the eye, nose, and airway, offers hope for curative measures in the near future. This review highlights these advances, as well as the challenges that remain with the development of personalized medicine for treating a very complex spectrum of disease, penetrant in a variety of organ systems.