...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Cell cycle >Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
【24h】

Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.

机译：人疯狂的疯子症和痢疾中的脓液素-4表达严重减少。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Aquaporin-4 (AQP4) is the major water channel expressed in fast-twitch skeletal muscle fibers. AQP4 is reduced in Duchenne and Becker Muscular Dystrophies, but not in caveolinopathies, thus suggesting an interaction with dystrophin or with members of the dystrophin-glycoprotein complex (DGC) rather than a nonspecific effect due to muscle membrane damage. To establish the role of sarcoglycans in AQP4 decrease occurring in muscular dystrophy, AQP4 expression was analyzed in muscle biopsies from patients affected by Limb Girdle Muscular Dystrophies (LGMDs) 2C-F genetically confirmed. In all the LGMD 2C-F (2alpha-, 1beta-, 2gamma-, 1delta-deficiency), AQP4 was severely decreased. This effect was associated to a marked reduction in alpha1-syntrophin levels. In control muscle AQP4 did not show a direct interaction with any of the four sarcoglycans but, it co-immunoprecipitated with alpha1-syntrophin, indicating that this modular protein may link AQP4 levels with the DGC complex. To determine whether AQP4 expression could be affected in other LGMDs due to the defect of a membrane protein not associated to the dystrophin complex, we examined AQP4 expression in 6 patients affected by dysferlin deficiency genetically confirmed. All the patients displayed a reduction of the water channel, and AQP4 expression appeared to correlate with the severity of the muscle histopathological lesions. However, differently from what observed in the sarcoglycans, alpha1-syntrophin expression was normal or just slightly reduced. These results seem to indicate an additional mechanism of regulation of AQP4 levels in muscle cells. In accordance with a specific effect of membrane muscle disorders, AQP4 protein levels were not changed in 3 mitochondrial and 3 metabolic myopathies. In conclusion, AQP4 expression and membrane localization are markedly reduced in LGMD 2B-2F. The role of AQP4 in the degenerative mechanism occurring in these diseases will be the object of our future research.
机译：Aquaporin-4（AQP4）是在快速抽搐骨骼肌纤维中表达的主要水通道。 AQP4在Duchenne和Becker肌营养不良中减少，但不在CaveolinatoPaties中，因此表明与肌醇蛋白 - 糖蛋白复合物（DGC）的构件相互作用，而不是由于肌肉膜损伤的非特异性效应。为了建立Sarcoglycan在肌营养不良中发生的AQP4减少中的作用，在受肢体肌营禁用症（LGMDS）2C-F的患者的患者中分析了AQP4表达的肌肉活组织检查。在所有LGMD 2C-F（2Alpha，1beta，2gamma-，1delta，缺乏）中，aqp4严重降低。这种效果与α1-同滴管水平的显着降低相关。在对照肌肉中，AQP4未显示出与四种Sarcoglycan中的任何一种的直接相互作用，而是用α1-同步蛋白共沉淀，表明该模块化蛋白可以将AQP4水平与DGC复合物联系起来。为了确定AQP4表达是否由于与营养不良蛋白复合物未与营养不良蛋白复合物相关的膜蛋白的缺陷，我们在6例受到脓肿缺乏的患者中检查了AQP4表达的遗传证实。所有患者均显示出水通道的还原，AQP4表达似乎与肌肉组织病理病变的严重程度相关。然而，不同地从Sarcoglycans中观察到的，α1-同步素表达正常或略微减少。这些结果似乎表示肌肉细胞中AQP4水平的额外调节机制。根据膜肌疾病的特定效果，3个线粒体和3个代谢肌病的AQP4蛋白水平没有变化。总之，在LGMD 2B-2F中，AQP4表达和膜定位明显减少。 AQP4在这些疾病中发生的退行性机制中的作用将是我们未来的研究的目的。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号