Programmed cell death in retinal degeneration - Targeting apoptosis in photoreceptors as potential therapy for retinal degeneration
Programmed cell death in retinal degeneration - Targeting apoptosis in photoreceptors as potential therapy for retinal degeneration
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DOI：
10.4161/cc.6.6.4029
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发表时间：
2007-03-15
期刊：
影响因子：
4.3
通讯作者：
Marigo, Valeria
中科院分区：
文献类型：
--
作者：
Marigo, Valeria
视网膜变性是导致无法治愈的失明的主要原因，其特征是视网膜感光细胞丧失。导致这些遗传疾病的几种基因已经被鉴定出来，然而，大部分患有色素性视网膜炎（RP）（一种常见的视网膜变性形式）的患者的分子特征仍然未知。这些疾病的高度遗传异质性阻碍了对导致感光细胞死亡的发病机制的理解。目前尚无治疗方法，因此人们对在细胞和分子水平上了解这些疾病的病因和发病机制非常感兴趣。在不同形式的 RP 中已经发现了一些共同特征。据报道，细胞凋亡是迄今为止分析的所有 RP 动物模型和患者的最终结果。我们最近在常染色体隐性 RP 视网膜变性 (rd1) 小鼠模型中发现了两种在经历细胞死亡的光感受器中共同激活的凋亡途径。我们的研究开辟了新的视角以及许多需要更深入分析的问题，以便利用这些知识并开发新的治疗方法。我们相信，最大限度地减少细胞死亡可能代表了一种有前景的治疗策略，需要用于治疗视网膜变性。
Retinal degenerations are the major cause of incurable blindness characterized by loss of retinal photoreceptor cells. Several genes causing these genetic diseases have been identified, however the molecular characterization of a high percentage of patients affected by retinitis pigmentosa (RP), a common form of retinal degeneration, is still unknown. The high genetic heterogeneity of these diseases hampers the comprehension of the pathogenetic mechanism causing photoreceptor cell death. Therapies are not available yet and for this reason there is a lot of interest in understanding the etiology and the pathogenesis of these disorders at a cellular and molecular level. Some common features have been identified in different forms of RP. Apoptosis was reported to be the final outcome in all RP animal models and patients analyzed so far. We recently identified two apoptotic pathways coactivated in photoreceptors undergoing cell death in the retinal degeneration (rd1) mouse model of autosomal recessive RP. Our studies opened new perspectives together with many questions that require deeper analyses in order to take advantage of this knowledge and develop new therapeutic approaches. We believe that minimizing cell demise may represent a promising curing strategy that needs to be exploited for retinal degeneration.