Research progress in research on Bestrophinopathies and mutations in BEST1 gene
10.3760/cma.j.cn511434-20240909-00335
- VernacularTitle:Best病与 BEST1基因突变致病机制的研究进展
- Author:
Haoliang ZHANG
1
;
Tong LI
1
;
Xiaodong SUN
1
Author Information
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
- Publication Type:Journal Article
- Keywords:
BEST1 gene mutation;
Bestrophinopathies;
Anion channel;
Protein dysfunction;
Gene therapy;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2025;41(3):239-248
- CountryChina
- Language:Chinese
-
Abstract:
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.
