Matthieu J M
Service de Pédiatrie, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
J Inherit Metab Dis. 1993;16(4):724-32. doi: 10.1007/BF00711904.
The myelin sheath is an extension of a plasma membrane tightly wrapped around axons. It facilitates conduction while conserving space and energy. Myelin is characterized by a high lipid content (80% of dry weight). Most myelin proteins are unique to that structure and some of them are restricted to the central or peripheral nervous system. In this review a few examples of inherited metabolic disorders affecting the oligodendrocyte and/or the Schwann cells are presented. Emphasis is placed on mutations in animals that represent invaluable models for investigating the molecular mechanisms of inherited myelin diseases in humans.
髓鞘是紧密包裹在轴突周围的质膜延伸物。它在节省空间和能量的同时促进传导。髓鞘的特点是脂质含量高（占干重的80%）。大多数髓鞘蛋白是该结构所特有的，其中一些仅限于中枢或周围神经系统。在这篇综述中，介绍了一些影响少突胶质细胞和/或施万细胞的遗传性代谢疾病的例子。重点是动物中的突变，这些突变代表了研究人类遗传性髓鞘疾病分子机制的宝贵模型。
