Abstract：
Water transport across the biological membranes is mediated by aquaporins (AQPs). AQP4 and AQP1 are the predominantly expressed AQPs in the skeletal muscle. Since the discovery of AQP4, several studies have highlighted reduced AQP4 levels in Duchenne muscular dystrophy (DMD) patients and mouse models, and other neuromuscular disorders (NMDs) such as sarcoglycanopathies and dysferlinopathies. AQP4 loss is attributed to the destabilizing dystrophin-associated protein complex (DAPC) in DMD leading to compromised water permeability in the skeletal muscle fibers. However, AQP4 knockout (KO) mice appear phenotypically normal. AQP4 ablation does not impair physical activity in mice but limits them from achieving the performance demonstrated by wild-type mice. AQP1 levels were found to be upregulated in DMD models and are thought to compensate for AQP4 loss. Several groups investigated the expression of other AQPs in the skeletal muscle; however, these findings remain controversial. In this review, we summarize the role of AQP4 with respect to skeletal muscle function and findings in NMDs as well as the implications from a clinical perspective.
摘要：
跨生物膜的水运输由水通道蛋白(AQP)介导。AQP4和AQP1是骨骼肌中主要表达的AQPs。自发现AQP4以来，多项研究强调了Duchenne肌营养不良（DMD）患者和小鼠模型中AQP4水平的降低，和其他神经肌肉疾病（NMDs），如肌糖病和铁异常病。AQP4损失归因于DMD中肌营养不良蛋白相关蛋白复合物（DAPC）的不稳定，导致骨骼肌纤维中的水渗透性受损。然而,AQP4敲除(KO)小鼠表现为表型正常。AQP4消融不会损害小鼠的身体活动，但会限制它们达到野生型小鼠所表现的性能。在DMD模型中发现AQP1水平上调,并且被认为补偿AQP4损失。几个小组研究了骨骼肌中其他AQP的表达；然而，这些发现仍然存在争议。在这次审查中,我们总结了AQP4在骨骼肌功能方面的作用和在NMD中的发现以及从临床角度的意义.
