SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy.
复制标题
DOI：
10.1155/2015/475392
复制
发表时间：
2015
影响因子：
--
通讯作者：
Parker MD
中科院分区：
文献类型：
--
作者：
Patel SP;Parker MD
先天性遗传性角膜内皮营养不良（CHED）是一种罕见的常染色体隐性遗传性角膜内皮疾病，其特征是出生时出现的非进行性双侧角膜水肿和浑浊。本文就SLC 4A 11基因、蛋白及其突变在CHED病理生理学和临床表现中的作用作一综述。患有CHED的个体在SLC 4A 11中具有突变，SLC 4A 11编码碳酸氢盐转运体的SLC 4家族中的跨膜蛋白。角膜内皮和内耳中SLC 4A 11的表达模式是CHED中所见的缺陷，伴有角膜水肿和听力损失（Harboyan综合征）。SLC 4A 11-空小鼠模型概括了CHED疾病表型，从而确立了SLC 4A 11在CHED中的功能作用。然而，SLC 4A 11的运输功能仍然不确定。SLC 4A 11的一些作用包括H+和NH 4+渗透、产电Na+-H+交换和水运输。未来的研究SLC 4A 11功能障碍的后果，以及进一步了解角膜内皮离子转运将有助于澄清SLC 4A 11参与CHED的病理生理学。
Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutations in SLC4A11 which encodes a transmembrane protein in the SLC4 family of bicarbonate transporters. The expression of SLC4A11 in the corneal endothelium and inner ear patterns the deficits seen in CHED with corneal edema and hearing loss (Harboyan syndrome). slc4a11-null-mouse models recapitulate the CHED disease phenotype, thus establishing a functional role for SLC4A11 in CHED. However, the transport function of SLC4A11 remains unsettled. Some of the roles that have been attributed to SLC4A11 include H+ and NH4 + permeation, electrogenic Na+-H+ exchange, and water transport. Future studies of the consequences of SLC4A11 dysfunction as well as further understanding of corneal endothelial ion transport will help clarify the involvement of SLC4A11 in the pathophysiology of CHED.