BEST1 SHOT THROUGH THE EYE - STRUCTURE, FUNCTIONS AND CLINICAL IMPLICATIONS OF BESTROPHIN-1 PROTEIN

Best1 protein (also known as bestrophin-1) is a highly conservative protein, member of the bestrophin family of anion channels. It is a product of the BEST1 gene and is expressed predominantly on the basolateral plasma membrane of retinal pigment epithelium cells in the human retina. The exact functions of the protein are still under discussion, but its role as an anion channel, regulator of a Ca2+ homeostasis and development of the eye have been proposed. Mutations in the protein are associated with several ocular diseases, named Bestrophinopathies (Best vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, autosomal recessive bestrophinopathy and adult-onset vitelliform macular degeneration). In this review we present general information about the structure and functions of human Best1 protein and summarize the role of identified Best1 mutations in the development of different pathological conditions. Biotechnol. & Biotechnol. Eq. 2013, 27(1), 3457-3464