Division of Experimental Retinal Therapies, Department of Clinical Sciences & Advanced Medicine, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Cell Death Dis. 2024 Sep 18;15(9):682. doi: 10.1038/s41419-024-07070-1.
PRLΔE1, a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while PRLΔE1 expression in rods is not associated with the initial phase of disease characterized by acute photoreceptor cell death, it is associated with the protracted phase of slow cell loss. Restoration of photoreceptors to a healthy state by gene-specific replacement therapy of individual IRDs successfully suppresses PRLΔE1 expression. Moreover, short-term PRLΔE1 silencing using shRNA results in preservation of outer nuclear layer thickness, suggesting PRLΔE1 drives retinal disease. However, longer-term observations reveal off-target toxic effects of the PRLΔE1 shRNA, precluding determination of its full therapeutic potential. Future research efforts aimed at enhancing the safety and specificity of PRLΔE1-targeting strategies may identify a potential universal intervention strategy for sustaining photoreceptors during the prolonged phase of multiple IRDs.
PRLΔE1 是一种在视网膜中特异性表达的催乳素同工型,存在于多种犬遗传性视网膜变性(IRD)中。我们发现,虽然杆状细胞中的 PRLΔE1 表达与以急性光感受器细胞死亡为特征的疾病初始阶段无关,但它与缓慢细胞丢失的延长阶段有关。通过对个体 IRD 进行基因特异性替代治疗来恢复光感受器至健康状态,可以成功抑制 PRLΔE1 的表达。此外,使用 shRNA 进行短期 PRLΔE1 沉默可导致外核层厚度的保持,表明 PRLΔE1 驱动视网膜疾病。然而,长期观察发现 PRLΔE1 shRNA 的脱靶毒性作用,排除了其全部治疗潜力的确定。未来旨在提高 PRLΔE1 靶向策略安全性和特异性的研究工作可能会确定一种在多种 IRD 的延长阶段维持光感受器的潜在通用干预策略。