ABCA4相关Stargardt病基因治疗的研究进展OA

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.