Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.
Collagen IV diseases: A focus on the glomerular basement membrane in Alport syndrome.
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DOI：
10.1016/j.matbio.2016.08.005
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发表时间：
2017-01
期刊：
影响因子：
--
通讯作者：
Liu S
中科院分区：
文献类型：
--
作者：
Cosgrove D;Liu S
Alport综合征是三种IV型胶原基因（COL 4A 3、COL 4A 4或COL 4A 5）中任何一种突变的结果。由于三种胶原蛋白链形成异源三聚体，因此在表达它们的基底膜中不存在所有三种蛋白质。在肾小球中，成熟的肾小球基底膜IV型胶原蛋白网络通常由两个独立的网络α3（IV）/α4（IV）/α5（IV）和α1（IV）/α2（IV）组成，完全由胶原蛋白α1（IV）/α2组成。本文综述了我们目前的知识状态，这种变化的后果，在基底膜组成，包括直接，通过胶原受体结合，和间接，关于肾小球生物力学的影响。我们目前对肾小球疾病发生和进展机制的理解状态将被检查，以及关于减缓或阻止Alport患者肾小球疾病的紧急治疗方法的最新技术水平。
Alport syndrome is the result of mutations in any of three type IV collagen genes, COL4A3, COL4A4, or COL4A5. Because the three collagen chains form heterotrimers, there is an absence of all three proteins in the basement membranes where they are expressed. In the glomerulus, the mature glomerular basement membrane type IV collagen network, normally comprised of two separate networks, α3(IV)/α4(IV)/α5(IV) and α1(IV)/α2(IV), is comprised entirely of collagen α1(IV)/α2. This review addresses the current state of our knowledge regarding the consequence of this change in basement membrane composition, including both the direct, via collagen receptor binding, and indirect, regarding influences on glomerular biomechanics. The state of our current understanding regarding mechanisms of glomerular disease initiation and progression will be examined, as will the current state of the art regarding emergent therapeutic approaches to slow or arrest glomerular disease in Alport patients.