Phypiology and pathophysiology of Na-HCO3 cotransporter

Na-HCO3 协同转运蛋白的植物学和病理生理学

• 批准号: 12671024
• 负责人: SEKI George
• 金额: $ 1.66万
• 依托单位: The University of Tokyo
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-12671024/
• 关键词: NBC-1; RTA; Cataracts; glaucoma; band keratepathy; hand keratopathy; ナトリウム重炭酸共輸送体; 近位尿細管性アシドーシス; 白内障; 緑内障; 帯状角膜変性症

Mutations in Na-HCO3 cotransporter (NBC-1) cause proximal renal tubular acidosis with ocular abnormalities. We have examined the localization of NBC-1 in the eye, and found that NBC-1 is present in the corneal endothelium, ciliary epithelium, trabecular meshwork, and lens epithelium. We also found NBC-1 activity in human lens epithelial cells. These findings could explain the occurrence of ocular abnormalities associated with NBC-1 inactivation.

Na-HCO 3协同转运蛋白（NBC-1）的突变导致近端肾小管酸中毒伴眼部异常。我们检测了眼内NBC-1的定位，发现NBC-1存在于角膜内皮、睫状体上皮、小梁网和透镜上皮中。我们还发现NBC-1活性在人类透镜上皮细胞。这些发现可以解释与NBC-1失活相关的眼部异常的发生。

项目成果

Igarashi T et al.: "Novel nonsense mutation in the Na^+/HCO_3^-cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma"J Am Soc Nephrol. 12. 713-718 (2001)

Igarashi T 等人：“永久性孤立性近端肾小管性酸中毒和双侧青光眼患者的 Na^/HCO_3^-协同转运蛋白基因 (SLC4A4) 中出现新的无义突变”J Am Soc Nephrol。

Hara C, Satoh H, Usui T, Kunimi M, Noiri E, Tsukamoto K, Taniguchi S, Uwatoko S, Goto A, Racusen LC, Inatomi J, Endou H, Fujita T, SeKi G.: "Intracellular pH regulatory mechanism in a human renal proximal cell line (HKC-8) : evidence for Na+/H+ exchanger,

Hara C, Satoh H, Usui T, Kunimi M, Noiri E, Tsukamoto K, Taniguchi S, Uwatoko S, Goto A, Racusen LC, Inatomi J, Endou H, Fujita T, SeKi G.：“细胞内 pH 调节机制

lgarashi T, Inatomi J, Sekine T, Seki G, Shimadzu M, Tozawa F, Takeshima Y, Takumi T, Takahashi T, Yoshikawa N, Nakamura H, Endou H.: "Novel nonsense mutation in the Na+/HC03- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal

lgarashi T、Inatomi J、Sekine T、Seki G、Shimadzu M、Tozawa F、Takeshima Y、Takumi T、Takahashi T、Yoshikawa N、Nakamura H、Endou H.：“Na /HC03-协同转运蛋白基因中的新型无义突变（

Kunimi M, et al.: "Dopamin inhibits renad Na^+HCO_3^- cotranspoter in habbit and normotensive rats but not in sportaneously hypertersive rats"Kidney Int. 57. 534-543 (2000)

Kunimi M 等人：“多巴胺抑制习惯性大鼠和正常血压大鼠中的 renad Na^HCO_3^- 共转运蛋白，但不会抑制运动性高血压大鼠”Kidney Int.

Usui T.et al.: "Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis"J. Clin. Invest.. 108. 107-115 (2001)

Usui T.et al.：“与近端肾小管酸中毒相关的眼部异常的分子基础”J。