Best病与BEST1基因突变致病机制的研究进展  

Research progress in research on Bestrophinopathies and mutations in BEST1 gene

作　　者：张昊亮 李彤 孙晓东 Zhang Haoliang;Li Tong;Sun Xiaodong(Department of Ophthalmology,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,National Clinical Research Center for Ophthalmic Diseases,Shanghai Key Laboratory of Fundus Diseases,Shanghai Engineering Center for Visual Science and Photomedicine,Shanghai 200080,China)

机构地区：[1]上海交通大学医学院附属第一人民医院眼科,国家眼部疾病临床医学研究中心,上海市眼底病重点实验室,上海眼视觉与光医学工程技术研究中心,上海200080

出　　处：《中华眼底病杂志》2025年第3期239-248,共10页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金(82101168)。

摘　　要：BEST1基因突变与包括Best卵黄状黄斑营养不良症在内的一系列统称为"Best病"的视网膜疾病相关。现已发现超过300种BEST1基因不同位点的突变,这些突变能够引发其编码的钙激活阴离子通道蛋白1蛋白质错误转运、蛋白质寡聚缺陷以及阴离子通道活性异常等一系列功能障碍,进而导致不同的临床表型。尽管已经确认BEST1基因突变与至少一种不同类型的Best病有关,但具体的基因突变位点与特定临床表型之间的关系尚未完全明确。目前。针对Best病的药物和基因治疗方案仍处于基础研究阶段,这为未来的治疗探索提供了广阔发展空间。未来,在临床应用中选择基因治疗方案时,需要将患者临床表型和分子诊断结合起来考虑,明确界定其突变类型及致病机制,才能达到更好的个性化治疗效果。Mutations in the BEST1 gene are associated with a range of retinal diseases collectively referred to as"Best diseases",including Best vitelline macular dystrophy.More than 300 mutations at different sites of the BEST1 gene have been found,which may cause a series of functional disorders such as the mistransport of the calcium-activated anion channel protein-1 protein encoded by it,protein oligomerization defects,and abnormal anion channel activity,leading to different clinical phenotypes.Although it has been established that the BEST1 gene mutation is associated with at least one different type of Best disease,the relationship between the specific gene mutation site and the specific clinical phenotype has not been fully defined.For the time being.Drugs and gene therapy for the Best diseases are still in the basic research stage,which provides a broad development space for future treatment exploration.In the future,when selecting gene therapy in clinical applications,it is necessary to combine the clinical phenotype and molecular diagnosis of patients,and clearly define their mutation types and pathogenic mechanisms in order to achieve better personalized treatment effects.

关 键 词：BEST1基因突变 BEST病 阴离子通道 蛋白功能障碍 基因治疗 综述 

分 类 号：R73[医药卫生—肿瘤]