眼科学报2024，Vol.39Issue(7)：345-351,7.DOI:10.12419/24071005
ABCA4相关Stargardt病基因治疗的研究进展
Research progress on gene therapy for ABCA4-related stargardt disease
摘要
Abstract
Stargardt disease(STGD1,OMIM#248200)is the most common hereditary macular dystrophy,caused by mutations in the ABCA4 gene,and is an autosomal recessive inherited disorder.The disease typically manifests in late childhood or early adulthood,leading to progressive and irreversible visual impairment.Significant advances in understanding the clinical and molecular characteristics,as well as the underlying pathophysiology,have ultimately facilitated numerous human clinical trials of new therapies that have been completed,are ongoing,and are planned.This review focuses on the progress in gene therapy research for STGD1.The primary obstacle in STGD1 gene therapy is the lengthy sequence of the ABCA4 gene and the low efficiency of specific transduction of the ABCA4 gene into photoreceptor cells.The key to addressing this issue is to develop a vector with a large carrying capacity that can efficiently transduce the ABCA4 gene into photoreceptor cells.Current gene therapy strategies for STGD1 mainly include adeno-associated viral(AAV)vectors,lentiviral vectors,nanoparticles,optogenetics,and antisense oligonucleotides(AONs).With the deepening of research,it is hoped that effective gene therapy methods for STGD1 will be developed in the future,bringing new therapeutic hope to patients.This review provides valuable references and ideas for clinical applications and scientific research.关键词
Stargardt病/ABCA4基因/基因治疗/综述Key words
Stargardt disease/ABCA4 gene/gene therapy/review分类
医药卫生引用本文复制引用
刘欣雨,刘泽浩,崔金利,林英,罗燕..ABCA4相关Stargardt病基因治疗的研究进展[J].眼科学报,2024,39(7):345-351,7.基金项目
广州市科技计划项目(SL2022A03J00452) （SL2022A03J00452）
中山大学2023年校级本科教学质量工程项目(教务2023-394-39) （教务2023-394-39）
白求恩·朗沐中青年眼科科研基金(BJ-LM2021014J).This work was supported by the Science and Technology Program of Guangzhou,China(SL2022A03J00452),Sun Yat-sen University's 2023 University-level Undergraduate Teaching Quality Engineering Project(2023-394-39)and the Bethune·Lumitin Research Funding for the young and middle-aged Ophthalmologists,China(BJ-LM2021014J). （BJ-LM2021014J）
