视网膜营养不良蛋白与杜氏肌营养不良视网膜病变

IF 18.6 1区 医学 Q1 OPHTHALMOLOGY
Mirella Telles Salgueiro Barboni , Anneka Joachimsthaler , Michel J. Roux , Zoltán Zsolt Nagy , Dora Fix Ventura , Alvaro Rendon , Jan Kremers , Cyrille Vaillend
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引用次数: 1

摘要

杜氏肌营养不良症(DMD)是由x连锁遗传或新生DMD基因突变引起的,主要影响早发性肌肉变性的男性,严重影响他们的生活质量,导致预期寿命缩短。DMD患者还可能出现增殖性视网膜病变、白内障、ERG异常、对比度敏感度改变、色觉丧失以及在黑暗适应过程中闪光检测阈值升高。根据大DMD基因中遗传改变的位置,它与全长肌营养不良蛋白的缺乏有关,可能还伴有一种或几种其他肌营养不良蛋白的额外损失,这些蛋白通常是从视网膜和晶状体的内部启动子转录的。在过去的几十年里,在不同基因改变的患者和DMD遗传小鼠模型中,肌营养不良蛋白的特性已经被表征。肌营养不良蛋白在光感受器、神经胶质细胞和星形胶质细胞中的复杂表达模式可能影响视网膜的突触传递、离子平衡和血管完整性。然而,每种视网膜营养不良蛋白的具体功能在很大程度上仍然未知。本文综述了目前关于肌营养不良蛋白表达的知识,推测的视网膜肌营养不良蛋白的分子、结构和生理特性,以及与DMD患者和小鼠模型中肌营养不良蛋白缺失相关的主要临床意义。目前的数据和工作假设保证了未来对视网膜营养不良蛋白的研究,以增加我们对中枢神经系统中营养不良蛋白功能的理解,并揭示新的视网膜机制和视网膜疾病的治疗途径。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by X-linked inherited or de novo DMD gene mutations predominantly affecting males who develop early-onset muscle degeneration, severely affecting their quality of life and leading to reduced life expectancy. DMD patients may also develop proliferative retinopathy, cataract, ERG abnormalities, altered contrast sensitivity, color vision losses, and elevated flash detection thresholds during dark adaptation. Depending on the position of the genetic alteration in the large DMD gene, it is associated with a lack of the full-length dystrophin protein possibly with an additional loss of one or several other dystrophins, which are normally transcribed from internal promoters in retina and crystalline lens. During the last decades, the properties of the dystrophins have been characterized in patients with different genetic alterations and in genetic mouse models of DMD. The complex expression pattern of the dystrophins in photoreceptors, Müller glial cells and astrocytes, likely influences synaptic transmission, ionic balance and vascular integrity of the retina. However, the specific function of each retinal dystrophin remains largely unknown. This review describes the current knowledge on dystrophin expression, the putative molecular, structural, and physiological properties of retinal dystrophins, and the main clinical implications associated with the loss of dystrophins in DMD patients and mouse models. Current data and working hypotheses warrant future research on retinal dystrophins to increase our understanding of dystrophin function in the central nervous system in general and to unveil new retinal mechanisms and therapeutic avenues for retinal diseases.

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来源期刊
CiteScore
34.10
自引率
5.10%
发文量
78
期刊介绍: Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.
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