The human Bestrophin family has four members, Best1, Best2, Best3 and Best4. These transmembrane proteins can function as chloride channels, and can also regulate calcium channels (1). The Bestrophins all have a conserved domain which begins at the N-terminus and is predicted to contain four transmembrane regions; the highly variable cytosolic domain, which follows the fourth transmembrane region, distinguishes the family members from one another (2).
A large number of mutations in Best1 (formerly known as VMD2) have been linked to a range of human eye diseases, collectively known as bestrophinopathies (3). The most common of these is Best’s Vitelliform Macular Dystrophy (BVMD), also known as Best’s disease, a dominantly-inherited juvenile-onset form of macular degeneration that is characterised by the gradual accumulation of a fatty yellow pigment (lipofuscin) in the cells of the outer retina (4). Individuals affected by BVMD retain normal peripheral vision and the ability to see at night, but with disease progression may eventually qualify for registration as sight impaired. A number of adult-onset macular dystrophies are also associated with mutations in Best1 (1).
Western Blot: Bestrophin 1 Antibody
Like other macular abnormalities, Best’s disease affects central vision in one or both eyes. The condition is progressive, and is identified by electroretinogram tests, which are used to assess the electrical response of the retina upon stimulation with light.
Best1 has a limited tissue distribution with protein expression confined to the retinal pigment epithelium (RPE), although mRNA has been detected in testis, placenta and brain (2). Further understanding of the function of Best1, as well as how mutations in this protein cause human eye disease, is required. This will enable the development of treatments for bestrophinopathies, such as BVMD which is currently incurable.
- PMID: 18391176
- PMID: 16720022
- PMID: 19398034
- PMID: 20349192
Novus Biologicals offers various Bestrophin 1 reagents for your research needs including:
Written by Emma Easthope