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Abstract：
Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis of HLD and the normal cellular functions of the related genes and proteins. An increasing number of studies have reported genetic mutations that cause protein misfolding, protein dysfunction, and/or mislocalization associated with HLD. Insight into the mechanisms of these pathways can provide new findings for the clinical treatments of HLD.
摘要：
髓鞘减少性脑白质营养不良（HLDs）代表了一组先天性罕见疾病，在最近的研究中已经确定了其相关基因。在这次审查中,我们简要描述了HLD发病的遗传/分子机制以及相关基因和蛋白质的正常细胞功能。越来越多的研究报道了导致蛋白质错误折叠的基因突变，蛋白质功能障碍，和/或与HLD相关的错误定位。深入了解这些通路的作用机制可以为HLD的临床治疗提供新的发现。
