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find Keyword "Protein dysfunction" 1 results
  • Research progress in research on Bestrophinopathies and mutations in BEST1 gene

    Since 1998, BEST1 gene mutations have been reported to cause at least five different clinical phenotypes such as Best vitelline macular dystrophy (BVMD), collectively known as “bestrophinopathies”, for which there is currently no effective treatment. Existing studies have found more than 300 mutations at different sites of the BEST1 gene, which may cause protein dysfunction such as malfunction of transportation, protein oligomerization defects, and abnormal anion channel activity of the encoded bestrophin1 protein, resulting in different manifestations. However, the relationship between the diverse clinical phenotypes of bestrophinopathies and the different mutation sites of BEST1 gene is still unclear. Drugs and gene therapy for bestrophinopathies are still under fundamental research and have a very broad prospect. In the future clinical selection of gene therapy, it is necessary to combine the clinical phenotype and molecular diagnosis of patients, clearly define their mutation types and pathogenic mechanisms, in order to achieve better personalized treatment effects.

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