Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes
Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes
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DOI：
10.1007/978-981-32-9636-7_13
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发表时间：
2019-01-01
期刊：
影响因子：
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通讯作者：
Inoue, Ken
中科院分区：
文献类型：
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作者：
Inoue, Ken
Pelizaeus-Merzbacher病（PMD）代表一组称为髓鞘生成不足脑白质营养不良的疾病，其特征在于中枢神经系统中髓鞘的异常发育和维持。PMD是由蛋白脂质蛋白1（PLP 1）基因中不同类型的突变引起的，PLP 1基因编码一种主要的髓鞘膜脂蛋白。PLP 1基因中的这些突变导致不同的细胞和分子病理学以及一系列临床表型。在这一章中，我讨论了历史方面和目前的理解的机制，不同的PLP 1突变如何破坏髓鞘形成的正常过程，并导致PMD和其他疾病。
Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These mutations in the PLP1 gene result in distinct cellular and molecular pathologies and a spectrum of clinical phenotypes. In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how different PLP1 mutations disrupt the normal process of myelination and result in PMD and other disorders.