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利用遗传性视网膜变性的犬类和猫类动物模型推进基因治疗。

Gene therapy advances using canine and feline animal models of inherited retinal degeneration.

作者信息

Petersen-Jones Simon M, Beckwith-Cohen Billie

机构信息

Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI, 48824, USA.

出版信息

Eye (Lond). 2025 Jun 3. doi: 10.1038/s41433-025-03825-y.

Abstract

Inherited retinal degenerations (IRDs) are a genetically heterogenous group of visually impairing conditions that affect many people worldwide. They are caused by mutations in a variety of genes with a range of vision loss onset from childhood to middle-age. Many IRDs are inherited in an autosomal recessive fashion and are due to loss of function of the gene product, allowing for a standard gene augmentation approach in which a normal copy of the mutated gene is introduced. Retinal gene delivery using adeno-associated viral (AAV) vectors has proven to be the safest and most effective approach and has been used in many clinical trials. Introducing a normal copy of the mutated gene is applicable when used prior to advanced photoreceptor degeneration while there are still sufficient "rescuable" photoreceptors. Several naturally occurring IRDs which are homologous to human IRDs have been identified in the dog and cat. A subset of these has been successfully used for preclinical trials that have contributed to regulatory approval for subsequent human clinical trials. While most have been for recessive conditions due to loss of gene function, examples of dominant disease requiring a knockdown of the mutant transcript exist and have been used. IRDs bear a considerable economic and societal impact. Identification and familiarity with appropriate models that can lead to successful therapeutic approaches are of great significance. This narrative review aims to summarize advances in gene therapy using canine and feline models for human IRDs and discuss their advantages and disadvantages as well as future perspectives using them.

摘要

遗传性视网膜变性(IRDs)是一组基因异质性的视力损害疾病,影响着全球许多人。它们由多种基因的突变引起,视力丧失的发病时间从童年到中年不等。许多IRDs以常染色体隐性方式遗传,是由于基因产物功能丧失所致,这使得一种标准的基因增强方法成为可能,即在其中引入突变基因的正常拷贝。使用腺相关病毒(AAV)载体进行视网膜基因递送已被证明是最安全、最有效的方法,并已用于许多临床试验。在晚期光感受器变性之前,当仍有足够数量的“可挽救”光感受器时,引入突变基因的正常拷贝是适用的。在狗和猫中已经鉴定出几种与人类IRDs同源的自然发生的IRDs。其中一部分已成功用于临床前试验,这些试验为后续人类临床试验的监管批准做出了贡献。虽然大多数试验针对的是由于基因功能丧失导致的隐性疾病,但也存在需要敲低突变转录本的显性疾病的例子并已被使用。IRDs具有相当大的经济和社会影响。识别并熟悉能够带来成功治疗方法的合适模型具有重要意义。这篇叙述性综述旨在总结使用犬类和猫类模型治疗人类IRDs的基因治疗进展,并讨论它们的优缺点以及使用它们的未来前景。

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