Bl6 Ndp-KO systemic gene therapy whole cochlea samples

We aimed to identify the effect of an AAV-based NDP gene therapy for Norrie disease. This therapy was tested on an Ndp-KO mouse model previously shown to recapitulate Norrie cochlear phenotype (Bryant et al 2022, PMID 35132964). We used transcriptomic analysis of whole cochlea lysates to determine the effect of this therapy on pathology related genes and downstream targets of Norrin signalling. Mice were treated at postnatal day 2 and cochleas collected for analysis at 2 months old.本研究旨在探究基于腺相关病毒（AAV）的NDP基因疗法对诺里病的治疗效果。该疗法在Ndp-KO小鼠模型中开展测试，此前已有研究证实该模型可重现诺里病的耳蜗表型（Bryant等，2022，PMID: 35132964）。本研究通过对全耳蜗裂解物进行转录组分析，以明确该疗法对病理相关基因及诺里蛋白（Norrin）信号通路下游靶点的调控作用。实验小鼠于出生后第2天接受治疗，并在2月龄时采集耳蜗组织用于后续分析。