John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK; Department of Ophthalmology, Addenbrooke's Hospital, Cambridge, UK.
John van Geest Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; Ikarovec Ltd, Norwich Innovation Centre, Norwich, UK.
Exp Eye Res. 2021 Dec;213:108793. doi: 10.1016/j.exer.2021.108793. Epub 2021 Oct 14.
Membrane contact sites (MCS) play crucial roles in cell physiology with dysfunction in several MCS proteins being linked with neurological and optic nerve diseases. Although there have been significant advances in imaging these interactions over the past two decades with advanced electron microscopy techniques, super-resolution imaging and proximity-dependent fluorescent reporters, a technique to observe and quantify MCS in mammalian optic nerve tissues has not yet been reported. We demonstrate for the first time that proximity ligation assay (PLA), a technique already used in mammalian cell lines, can be used as an efficient method of quantifying inter-organelle contact sites, namely mitochondria-endoplasmic reticulum (ER) and mitochondria-late-endosomes, in mammalian optic nerve tissues treated with adeno-associated virus (AAV) gene therapy with wild-type or phosphomimetic (active) protrudin. PLA utilises complementary single-stranded DNA oligomers bound to secondary antibodies that hybridise and complete a circular piece of DNA when the primary antibodies of interest interact. These interactions can be detected by amplifying the circular DNA and adding fluorescent probes. We show that PLA is a useful method that can be used to quantify MCS in optic nerve tissues. We have found that upregulation of protrudin with gene therapy significantly increases the number of mitochondria-ER and mitochondria-Rab7-late endosomes contact sites in optic nerves.
膜接触位点 (MCS) 在细胞生理学中发挥着关键作用,几种 MCS 蛋白的功能障碍与神经和视神经疾病有关。尽管在过去的二十年中,随着先进的电子显微镜技术、超分辨率成像和基于邻近依赖性的荧光报告器的发展,已经取得了对这些相互作用进行成像的重大进展,但仍未报道用于观察和定量哺乳动物视神经组织中 MCS 的技术。我们首次证明,已经在哺乳动物细胞系中使用的邻近连接分析 (PLA) 技术可以作为一种有效的方法,用于定量经腺相关病毒 (AAV) 基因治疗处理的哺乳动物视神经组织中的细胞器接触位点,即线粒体-内质网 (ER) 和线粒体-晚期内体,用于野生型或磷酸模拟 (活性) 突起蛋白。PLA 利用互补的单链 DNA 寡核苷酸与结合在二级抗体上,当感兴趣的初级抗体相互作用时,这些寡核苷酸会杂交并完成一段圆形 DNA。这些相互作用可以通过扩增圆形 DNA 并添加荧光探针来检测。我们表明,PLA 是一种有用的方法,可用于定量视神经组织中的 MCS。我们发现,基因治疗中突起蛋白的上调显著增加了视神经中线粒体-ER 和线粒体-Rab7-晚期内体接触位点的数量。