Suzuki Masashi, Seki George, Yamada Hideomi, Horita Shoko, Fujita Toshiro
Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan.
Open Ophthalmol J. 2012;6:36-41. doi: 10.2174/1874364101206010036. Epub 2012 Jun 21.
Electrogenic Na(+)-HCO(3) (-) cotransporter NBCe1 is expressed in several tissues such as kidney, eye, and brain, where it may mediate distinct biological processes. In particular, NBCe1 in renal proximal tubules is essential for the regulation of systemic acid/base balance. On the other hand, NBCe1 in eye may be indispensable for the maintenance of tissue homeostasis. Consistent with this view, homozygous mutations in NBCe1 cause severe proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataract. The widespread expression of NBCe1 in eye suggests that the inactivation of NBCe1 per se may be responsible for the occurrence of these ocular abnormalities. In this review, we discuss about physiological and pathological roles of NBCe1 in eye.
电生性钠-碳酸氢根共转运体NBCe1在肾脏、眼睛和大脑等多种组织中表达，在这些组织中它可能介导不同的生物学过程。特别是，肾近端小管中的NBCe1对于全身酸碱平衡的调节至关重要。另一方面，眼睛中的NBCe1对于维持组织内环境稳定可能不可或缺。与此观点一致，NBCe1的纯合突变会导致严重的近端肾小管酸中毒，并伴有带状角膜病变、青光眼和白内障等眼部异常。NBCe1在眼睛中的广泛表达表明，NBCe1本身的失活可能是这些眼部异常发生的原因。在本综述中，我们讨论了NBCe1在眼睛中的生理和病理作用。
