小柯机器人

光遗传基因治疗可部分恢复失明患者的视觉功能，这一成果由瑞士巴塞尔分子与临床眼科研究所Botond Roska和法国巴黎视觉研究所José-Alain Sahel团队经过不懈努力而取得。2021年5月24日出版的《自然-医学》发表了这项成果。

研究人员对一个盲人患者实施了眼球注射编码ChrimsonR腺病毒载体进行光刺激与工程护目镜相结合的治疗。护目镜可检测光强度的局部变化，并将相应的光脉冲实时投射到视网膜上，以激活光遗传学转导的视网膜神经节细胞。戴护目镜时，患者仅使用经过矢量处理的眼镜即可感知、定位、计数和触摸不同的物体。

在视觉感知期间，多通道脑电图记录显示了视觉皮层上方与对象相关的活动。注射之前有或没有护目镜或在没有护目镜的情况下进行注射，患者都无法检测到任何物体。本研究是光遗传治疗可恢复神经退行性疾病患者部分功能的首例报道。

研究人员表示，光遗传学使神经疾病中神经元功能独立、电路特异性恢复成为可能。色素性视网膜炎是一种神经退行性视觉疾病，其光感受器丧失可导致完全失明。

附：英文原文

Title: Partial recovery of visual function in a blind patient after optogenetic therapy

Author: Jos-Alain Sahel, Elise Boulanger-Scemama, Chlo Pagot, Angelo Arleo, Francesco Galluppi, Joseph N. Martel, Simona Degli Esposti, Alexandre Delaux, Jean-Baptiste de Saint Aubert, Caroline de Montleau, Emmanuel Gutman, Isabelle Audo, Jens Duebel, Serge Picaud, Deniz Dalkara, Laure Blouin, Magali Taiel, Botond Roska

Issue&Volume: 2021-05-24

Abstract: Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease where loss of photoreceptors can lead to complete blindness. In a blind patient, we combined intraocular injection of an adeno-associated viral vector encoding ChrimsonR with light stimulation via engineered goggles. The goggles detect local changes in light intensity and project corresponding light pulses onto the retina in real time to activate optogenetically transduced retinal ganglion cells. The patient perceived, located, counted and touched different objects using the vector-treated eye alone while wearing the goggles. During visual perception, multichannel electroencephalographic recordings revealed object-related activity above the visual cortex. The patient could not visually detect any objects before injection with or without the goggles or after injection without the goggles. This is the first reported case of partial functional recovery in a neurodegenerative disease after optogenetic therapy. Combined intraocular injection of an adeno-associated viral vector, encoding an optogenetic sensor, with light stimulation via engineered goggles enables partial recovery of visual function in a blind patient.

DOI: 10.1038/s41591-021-01351-4

Source: https://www.nature.com/articles/s41591-021-01351-4

Nature Medicine：《自然—医学》，创刊于1995年。隶属于施普林格·自然出版集团，最新IF：87.241
官方网址：https://www.nature.com/nm/
投稿链接：https://mts-nmed.nature.com/cgi-bin/main.plex