Department of Ophtalmology, Grigore T. Popa University of Medicine and Pharmacy, 700115 Iaşi, Romania.
Ophthalmology Clinic, Sf. Spiridon Emergency Clinical Hospital, 700111 Iaşi, Romania.
Int J Mol Sci. 2024 Oct 14;25(20):11019. doi: 10.3390/ijms252011019.
Glaucoma is a group of optic neuropathies characterized by the degeneration of retinal ganglion cells and the loss of their axons in the optic nerve. The only approved therapies for the treatment of glaucoma are topical medications and surgical procedures aimed at lowering intraocular pressure. Gene therapy involves the insertion, removal, or modification of genetic material within cells to repair or compensate for the loss of a gene's function. It describes a process or technology that enables the genetic modification of cells to produce a therapeutic effect. However, changing the genetic material alone does not extend the duration of overexpression of proteins that combat disease, nor does it facilitate the production of new proteins for this purpose. We reviewed the literature concerning the use of gene therapy in the treatment of glaucoma and explored the future directions that this innovation may offer. Three genes associated with glaucoma have been identified within these loci: myocilin/trabecular meshwork glucocorticoid response (TIGR) (GLC1A), optineurin (GLC1E), and WDR36 (GLC1G). Among these, the most extensively studied glaucoma gene is myocilin (a TM-inducible glucocorticoid response gene). Building on previous successes, researchers have begun to apply genetic therapeutic approaches to alleviate or reduce symptoms associated with ocular hypertension (OHT) and glaucoma-like optic neuropathy (GON). It is evident that several therapeutic strategies exist that modulate aqueous humor production and flow, thereby regulating intraocular pressure (IOP) and protecting retinal ganglion cells (RGCs) from apoptosis. With the emergence of gene therapy as a potentially viable approach to preserving vision, new methods for managing glaucoma may soon become available. Genomic therapy is a promising treatment option for glaucoma patients and has significant potential for widespread clinical application.
青光眼是一组以视网膜神经节细胞变性和视神经轴突丢失为特征的视神经病变。目前,治疗青光眼的唯一方法是局部使用药物和手术来降低眼压。基因治疗涉及将遗传物质插入、去除或修饰细胞内的遗传物质,以修复或补偿基因功能的丧失。它描述了一种使细胞的遗传修饰产生治疗效果的过程或技术。然而,仅仅改变遗传物质并不能延长对抗疾病的蛋白质的过表达持续时间,也不能促进为此目的产生新的蛋白质。我们回顾了有关基因治疗在青光眼治疗中的应用的文献,并探讨了这一创新可能带来的未来方向。在这些基因座中已经确定了与青光眼相关的三个基因:肌球蛋白/小梁网糖皮质激素反应(TIGR)(GLC1A)、视神经病变(GLC1E)和 WDR36(GLC1G)。在这些基因中,研究最多的青光眼基因是肌球蛋白(一种 TM 诱导的糖皮质激素反应基因)。基于之前的成功,研究人员已经开始应用基因治疗方法来减轻或缓解与眼高压(OHT)和青光眼样视神经病变(GON)相关的症状。显然,有几种治疗策略可以调节房水的产生和流动,从而调节眼压(IOP)并防止视网膜神经节细胞(RGC)凋亡。随着基因治疗作为一种有前途的保留视力方法的出现,治疗青光眼的新方法可能很快就会出现。基因组治疗是青光眼患者有前途的治疗选择,具有广泛临床应用的巨大潜力。