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维持机体的酸碱稳态对各项生理活动的有序进行具有根本性的意义,酸碱紊乱会导致一系列疾病。碳酸氢根(HCO3-)是机体中最重要的酸碱缓冲离子。SLC4家族的HCO3-跨膜转运体是机体最主要的HCO3-跨膜运输载体之一,在细胞的pH调控以及上皮细胞中HCO3-的吸收或分泌过程中起着非常重要的作用。SLC4家族的NBCe1(SLC4A4)是一个生电型的Na+/HCO3-共转运体,在各种组织中有着非常广泛的表达,具有极其重要的生理学作用。在肾脏近端肾小管中,NBCe1负责80%以上的HCO3-的重吸收,对于维持机体全局的酸碱平衡极其重要。人类的SLC4A4突变常导致严重的近端肾小管性酸中毒,且常伴有侏儒症、偏头疼、白内障、青光眼以及牙齿釉质发育异常等。本文对最近十多年来有关NBCe1的结构-功能关系、功能调控机制、NBCe1的生理及病理学作用机理等方面的研究进展进行综述与分析。
Maintaining the body’s acid-base stability of the various physiological activities in an orderly manner has a fundamental significance, acid-base disorders can lead to a series of diseases. Bicarbonate (HCO3-) is the body’s most important acid-base buffer ions. The HCO3-transmembrane transporter of the SLC4 family is one of the most important HCO3-transmembrane transport vectors in the body and plays a very important role in the pH control of cells and the uptake or secretion of HCO3- in epithelial cells. The SLC4 family of NBCe1 (SLC4A4) is an electropositive Na + / HCO3-cotransporter with a very broad range of expression in a variety of tissues and has an extremely important physiological role. In the proximal renal tubules, NBCe1 is responsible for more than 80% of HCO3- reabsorption and is crucial for maintaining the body’s overall acid-base balance. Human SLC4A4 mutations often cause severe proximal tubular acidosis and are often accompanied by dwarfism, migrainesia, cataracts, glaucoma, and tooth enamel dysplasia. This review summarizes and summarizes the recent advances in the structure-function relationships, functional regulatory mechanisms, and the physiological and pathological mechanisms of NBCe1 over the past decade or so.