Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, Saint Louis, MO, 63110, USA.
Department of Ophthalmology, Medical University of South Carolina, Charleston, SC, 29425, USA.
Sci Rep. 2018 Sep 21;8(1):14201. doi: 10.1038/s41598-018-32667-w.
Efficient chromophore supply is paramount for the continuous function of vertebrate cone photoreceptors. It is well established that isomerization of all-trans- to 11-cis- retinoid in the retinal pigmented epithelium by RPE65 is a key reaction in this process. Mutations in RPE65 result in a disrupted chromophore supply, retinal degeneration, and blindness. Interestingly, RPE65 has recently been found to also be expressed in cone photoreceptors in several species, including mouse and human. However, the functional role of cone-expressed RPE65 has remained unknown. Here, we used loss and gain of function approaches to investigate this issue. First, we compared the function of cones from control and RPE65-deficient mice. Although we found that deletion of RPE65 partially suppressed cone dark adaptation, the interpretation of this result was complicated by the abnormal cone structure and function caused by the chromophore deficiency in the absence of RPE65 in the pigmented epithelium. As an alternative approach, we generated transgenic mice to express human RPE65 in the cones of mice where RPE65 expression is normally restricted to the pigmented epithelium. Comparison of control (RPE65-deficient) and transgenic (RPE65-expressing) cones revealed no morphological or functional changes, with only a slight delay in dark adaptation, possibly caused by the buffering of retinoids by RPE65. Together, our results do not provide any evidence for a functional role of RPE65 in mouse cones. Future studies will have to determine whether cone-expressed RPE65 plays a role in maintaining the long-term homeostasis of retinoids in cones and their function and survival, particularly in humans.
有效的色原供应对于脊椎动物视锥细胞的持续功能至关重要。众所周知,视黄醛在视网膜色素上皮细胞中由 RPE65 异构化为全反式-11-顺式视黄醛是该过程中的关键反应。RPE65 的突变导致色原供应中断、视网膜变性和失明。有趣的是,最近发现 RPE65 也在包括小鼠和人类在内的几种物种的视锥细胞中表达。然而,表达在视锥细胞中的 RPE65 的功能作用仍然未知。在这里,我们使用功能丧失和功能获得的方法来研究这个问题。首先,我们比较了来自对照和 RPE65 缺陷型小鼠的视锥细胞的功能。尽管我们发现 RPE65 的缺失部分抑制了视锥细胞的暗适应,但由于色素上皮细胞中缺乏 RPE65 导致的色原缺乏导致视锥细胞结构和功能异常,因此对这一结果的解释变得复杂。作为替代方法,我们生成了表达人 RPE65 的转基因小鼠,使其在 RPE65 表达通常局限于色素上皮细胞的小鼠的视锥细胞中表达。对照(RPE65 缺陷型)和转基因(RPE65 表达型)视锥细胞的比较显示没有形态或功能变化,只有暗适应略有延迟,这可能是由于 RPE65 对视黄醛的缓冲作用所致。总之,我们的结果没有提供任何证据表明 RPE65 在小鼠视锥细胞中具有功能作用。未来的研究将不得不确定表达在视锥细胞中的 RPE65 是否在维持视黄醛在视锥细胞中的长期动态平衡及其功能和存活方面发挥作用,特别是在人类中。