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用于治疗视网膜色素变性的动物模型及不同疗法。

Animal models and different therapies for treatment of retinitis pigmentosa.

作者信息

Rivas Miren Agurtzane, Vecino Elena

机构信息

Department of Cell Biology and Histology, University of the Basque Country, Vizcaya, Spain.

出版信息

Histol Histopathol. 2009 Oct;24(10):1295-322. doi: 10.14670/HH-24.1295.

Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of retinal degenerative diseases initially affecting the rod photoreceptor. Patients present with night blindness, loss of peripheral vision and finally the loss of central vision, as a consequence of death of cone photoreceptors. RP is a genetic disease, showing inheritance of autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) recessive traits, although some patients have no family history of RP (simplex RP). Many animal models of RP are available and have led to a better understanding of the pathology of the disease, and to the development of therapeutic strategies aimed at curing or slowing down the genetic disorder. In this review, we describe the selected animal models (natural and transgenic) and their phenotypes and genotypes, as well as the advantages and disadvantages of the use of each animal. Also, we look at different therapeutic strategies being studied worldwide and report the latest results. Nevertheless, many obstacles will have to be overcome before most of these strategies can be applied to humans.

摘要

视网膜色素变性(RP)是一组异质性的视网膜退行性疾病,最初影响视杆光感受器。患者表现为夜盲、周边视力丧失,最终由于视锥光感受器死亡而导致中心视力丧失。RP是一种遗传性疾病,呈常染色体显性(AD)、常染色体隐性(AR)或X连锁(XL)隐性遗传特征,尽管有些患者没有RP家族史(单纯性RP)。目前有许多RP动物模型,这有助于更好地理解该疾病的病理,并推动了旨在治愈或减缓这种遗传疾病的治疗策略的发展。在这篇综述中,我们描述了所选的动物模型(天然和转基因)及其表型和基因型,以及使用每种动物的优缺点。此外,我们还探讨了全球正在研究的不同治疗策略,并报告了最新结果。然而,在将这些策略中的大多数应用于人类之前,还必须克服许多障碍。

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