BEST2

BEST2 is a gene that encodes the Bestrophin-2 protein in humans. Bestrophin-2 is part of the Bestrophin family of proteins, which are thought to function as chloride channels that play a critical role in the regulation of membrane potential and intracellular chloride concentrations. The Bestrophin family members, including Bestrophin-2, are predominantly expressed in the retinal pigment epithelium (RPE) and are implicated in the physiology of the retina.

Function

The precise function of Bestrophin-2 remains an area of active research, but it is believed to contribute to the homeostasis of the ocular environment by participating in the regulation of ion transport across the RPE. This is crucial for maintaining the health and function of the photoreceptor cells in the retina. Alterations in ion transport can lead to changes in the retinal environment, potentially impacting visual function.

Clinical Significance

While mutations in the BEST1 gene are well-documented to cause Best vitelliform macular dystrophy, a form of inherited retinal dystrophy that leads to vision loss, the role of BEST2 mutations in human disease is less clear. Research suggests that variations in the BEST2 gene may have implications for retinal disease, but the evidence is not as strong or direct as it is for BEST1-related conditions.

Genetic and Molecular Biology

The BEST2 gene is located on human chromosome 19 (19p13.3). It encodes a protein that is part of the larger family of Bestrophins, which are characterized by their ability to form chloride channels. These channels are integral for the proper functioning of the RPE, which supports the photoreceptors by absorbing light, supplying nutrients, and maintaining the ion balance in the subretinal space.

Research Directions

Ongoing research aims to elucidate the detailed mechanisms by which Bestrophin-2 and other members of the Bestrophin family contribute to retinal health and disease. Understanding these mechanisms may open new avenues for the treatment of retinal diseases, including those associated with Bestrophin dysfunction. Additionally, studies are exploring the potential roles of Bestrophin-2 beyond the retina, given its expression in other tissues.

See Also

• Bestrophin-1
• Retinal pigment epithelium
• Chloride channel
• Retinal dystrophy