Jentsch Thomas J, Maritzen Tanja, Zdebik Anselm A
Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Hamburg, Germany.
J Clin Invest. 2005 Aug;115(8):2039-46. doi: 10.1172/JCI25470.
The transport of anions across cellular membranes is crucial for various functions, including the control of electrical excitability of muscle and nerve, transport of salt and water across epithelia, and the regulation of cell volume or the acidification and ionic homeostasis of intracellular organelles. Given this broad range of functions, it is perhaps not surprising that mutations in Cl- channels lead to a large spectrum of diseases. These diverse pathologies include the muscle disorder myotonia, cystic fibrosis, renal salt loss in Bartter syndrome, kidney stones, deafness, and the bone disease osteopetrosis. This review will focus on diseases related to transepithelial transport and on disorders involving vesicular Cl- channels.
阴离子跨细胞膜的转运对于多种功能至关重要，包括控制肌肉和神经的电兴奋性、盐和水跨上皮的转运，以及细胞体积的调节或细胞内细胞器的酸化和离子稳态。鉴于功能范围如此广泛，氯离子通道的突变导致多种疾病或许并不令人惊讶。这些不同的病症包括肌肉疾病肌强直、囊性纤维化、巴特综合征中的肾盐丢失、肾结石、耳聋和骨疾病骨硬化症。本综述将聚焦于与跨上皮转运相关的疾病以及涉及囊泡氯离子通道的病症。
