RECENT DEVELOPMENTS IN MENKES DISEASE
RECENT DEVELOPMENTS IN MENKES DISEASE
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DOI：
10.1007/bf00711911
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发表时间：
1993-01-01
影响因子：
4.2
通讯作者：
KODAMA, H
中科院分区：
文献类型：
--
作者：
KODAMA, H
本文综述了近年来门克斯病的研究进展，重点介绍了铜在细胞内的转运。大量的铜积累在无细胞器的细胞质中，而线粒体处于铜缺乏状态，表明Menkes突变可能影响铜从细胞质到细胞器的运输。对黄斑小鼠大脑的显微镜观察显示，铜在血管中积累。在脑室内给予铜后观察黄斑小鼠的脑组织，发现铜在神经胶质和血管中积累。在培养的星形胶质细胞（一种神经胶质细胞）中也观察到铜积累，表明受影响的星形胶质细胞积累血源性铜，并在门克斯病患者中释放很少。因此，门克斯病的有效治疗可能是将被捕获的铜从血管和胶质细胞释放到神经元中。
Recent studies on Menkes disease are reviewed, focusing especially on copper transport in the cells. A large amount of copper accumulated in the organelle-free cytoplasm, whereas mitochondria were in a state of copper deficiency, indicating that Menkes mutation probably affects copper transport from the cytosol to the organelles in the cells. Microscopic observation of the brain of the macular mouse showed that copper accumulates in the blood vessels. Observation of the brain tissue of the macular mouse after intraventricular administration of copper revealed that copper accumulates in the glia as well as the blood vessels. Copper accumulation was also observed in cultured astrocytes, a type of glial cell, indicating that the affected astrocytes accumulate blood-borne copper and release little of it in the patients with Menkes disease. Thus the effective treatment of Menkes disease could possibly be to release trapped copper from the blood vessels and glia into the neurons.