Hino S, Takemura T, Sado Y, Kagawa M, Oohashi T, Ninomiya Y, Yoshioka K
Department of Pediatrics, Kinki University School of Medicine, Osaka-sayama, Japan.
Pediatr Nephrol. 1996 Dec;10(6):742-4. doi: 10.1007/s004670050206.
To identify the abnormalities of the type IV collagen alpha 6 chain, alpha 6(IV), in Alport syndrome, we examined renal and skin tissue using rat monoclonal antibodies against non-consensus amino acid sequences of alpha 6(IV). Immunofluorescence of normal human kidney and skin tissue revealed linear alpha 6(IV) staining in the basement membrane (BM) of Bowman's capsule, in some tubules, and also in the epidermal BM. Renal specimens from five male patients of four families with X-linked Alport syndrome showed no reactivity for alpha 6(IV) in Bowman's capsules and tubules. In these patients, alpha 1(IV) and alpha 2(IV) were normal, whereas alpha 3(IV), alpha 4(IV), and alpha 5(IV) were absent from the BMs of the kidney. In skin tissue of male patients, neither alpha 5(IV) nor alpha 6(IV) were detected. The epidermal BM of female heterozygotes with X-linked Alport syndrome showed a mosaic staining for alpha 5(IV) and alpha 6(IV). These findings indicate that, in addition to a disturbed alpha 3(IV)-alpha 4(IV)-alpha 5(IV) network, patients with X-linked Alport syndrome have abnormalities in alpha 6(IV) of the renal and epidermal BMs at the protein level.
为了鉴定Alport综合征中IV型胶原α6链（α6(IV)）的异常情况，我们使用针对α6(IV)非共有氨基酸序列的大鼠单克隆抗体检测了肾脏和皮肤组织。正常人类肾脏和皮肤组织的免疫荧光显示，在鲍曼囊的基底膜、部分肾小管以及表皮基底膜中存在α6(IV)的线性染色。来自四个家族的五名男性X连锁Alport综合征患者的肾脏标本显示，鲍曼囊和肾小管中的α6(IV)无反应性。在这些患者中，α1(IV)和α2(IV)正常，而肾脏基底膜中不存在α3(IV)、α4(IV)和α5(IV)。在男性患者的皮肤组织中，未检测到α5(IV)和α6(IV)。X连锁Alport综合征女性杂合子的表皮基底膜显示α5(IV)和α6(IV)呈镶嵌染色。这些发现表明，除了α3(IV)-α4(IV)-α5(IV)网络紊乱外，X连锁Alport综合征患者在肾脏和表皮基底膜的α6(IV)蛋白水平也存在异常。
