van Beelen Edward S A, van der Valk Wouter H, Verhagen Thijs O, de Groot John C M J, Madison Margot A, Shadmanfar Wijs, Hensen Erik F, Jansen Jeroen C, van Benthem Peter Paul G, Holt Jeffrey R, Locher Heiko
Department of Otorhinolaryngology and Head & Neck Surgery, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
Department of Otolaryngology & Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Biomolecules. 2022 Jun 10;12(6):816. doi: 10.3390/biom12060816.
Numerous studies have shown the recovery of auditory function in mouse models of genetic hearing loss following AAV gene therapy, yet translation to the clinic has not yet been demonstrated. One limitation has been the lack of human inner ear cell lines or tissues for validating viral gene therapies. Cultured human inner ear tissue could help confirm viral tropism and efficacy for driving exogenous gene expression in targeted cell types, establish promoter efficacy and perhaps selectivity for targeted cells, confirm the expression of therapeutic constructs and the subcellular localization of therapeutic proteins, and address the potential cellular toxicity of vectors or exogenous constructs. To begin to address these questions, we developed an explant culture method using native human inner ear tissue excised at either fetal or adult stages. Inner ear sensory epithelia were cultured for four days and exposed to vectors encoding enhanced green fluorescent protein (eGFP). We focused on the synthetic AAV9-PHP.B capsid, which has been demonstrated to be efficient for driving eGFP expression in the sensory hair cells of mouse and non-human primate inner ears. We report that AAV9-PHP.B also drives eGFP expression in fetal cochlear hair cells and in fetal and adult vestibular hair cells in explants of human inner ear sensory epithelia, which suggests that both the experimental paradigm and the viral capsid may be valuable for translation to clinical application.
大量研究表明,在基因性听力损失的小鼠模型中,腺相关病毒(AAV)基因治疗后听觉功能得以恢复,但尚未证明其可转化至临床应用。一个限制因素是缺乏用于验证病毒基因治疗的人类内耳细胞系或组织。培养的人类内耳组织有助于确认病毒嗜性以及在靶向细胞类型中驱动外源基因表达的功效,确定启动子功效以及对靶向细胞的可能选择性,确认治疗性构建体的表达和治疗性蛋白质的亚细胞定位,并解决载体或外源构建体的潜在细胞毒性问题。为了开始解决这些问题,我们开发了一种外植体培养方法,使用在胎儿期或成年期切除的天然人类内耳组织。将内耳感觉上皮培养四天,并暴露于编码增强型绿色荧光蛋白(eGFP)的载体。我们重点研究了合成的AAV9-PHP.B衣壳,它已被证明在小鼠和非人灵长类动物内耳的感觉毛细胞中驱动eGFP表达是有效的。我们报告称,AAV9-PHP.B也能在人类内耳感觉上皮外植体的胎儿耳蜗毛细胞以及胎儿和成年前庭毛细胞中驱动eGFP表达,这表明实验范式和病毒衣壳对于转化至临床应用可能都具有价值。