期刊
PHYSIOLOGICAL REVIEWS
卷 88, 期 2, 页码 639-672出版社
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/physrev.00022.2007
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资金
- NEI NIH HHS [R01 EY014852-08, EY-14852, R01 EY014852] Funding Source: Medline
- NIGMS NIH HHS [R01 GM060448, GM-60448, R01 GM060448-08] Funding Source: Medline
- NATIONAL EYE INSTITUTE [R01EY014852] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM060448] Funding Source: NIH RePORTER
This article reviews the current state of knowledge about the bestrophins, a newly identified family of proteins that can function both as Cl- channels and as regulators of voltage-gated Ca2+ channels. The founding member, human bestrophin-1 (hBest1), was identified as the gene responsible for a dominantly inherited, juvenile-onset form of macular degeneration called Best vitelliform macular dystrophy. Mutations in hBest1 have also been associated with a small fraction of adult-onset macular dystrophies. It is proposed that dysfunction of bestrophin results in abnormal fluid and ion transport by the retinal pigment epithelium, resulting in a weakened interface between the retinal pigment epithelium and photoreceptors. There is compelling evidence that bestrophins are Cl- channels, but bestrophins remain enigmatic because it is not clear that the Cl- channel function can explain Best disease. In addition to functioning as a Cl- channel, hBest1 also is able to regulate voltage-gated Ca2+ channels. Some bestrophins are activated by increases in intracellular Ca2+ concentration, but whether bestrophins are the molecular counterpart of Ca2+-activated Cl- channels remains in doubt. Bestrophins are also regulated by cell volume and may be a member of the volume-regulated anion channel family.
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