Abstract：
Studies of the pathophysiology of fragile X syndrome (FXS) have predominantly focused on synaptic and neuronal disruptions in the disease. However, emerging studies highlight the consistency of white matter abnormalities in the disorder. Recent investigations using animal models of FXS have suggested a role for the fragile X translational regulator 1 protein (FMRP) in the development and function of oligodendrocytes, the myelinating cells of the central nervous system. These studies are starting to uncover FMRP\'s involvement in the regulation of myelin-related genes, such as myelin basic protein, and its influence on the maturation and functionality of oligodendrocyte precursor cells and oligodendrocytes. Here, we consider evidence of white matter abnormalities in FXS, review our current understanding of FMRP\'s role in oligodendrocyte development and function, and highlight gaps in our knowledge of the pathogenic mechanisms that may contribute to white matter abnormalities in FXS. Addressing these gaps may help identify new therapeutic strategies aimed at enhancing outcomes for individuals affected by FXS.
摘要：
脆性X综合征（FXS）的病理生理学研究主要集中在该疾病的突触和神经元破坏上。然而,新出现的研究强调了该疾病中白质异常的一致性。最近使用FXS动物模型进行的研究表明，脆性X翻译调节因子1蛋白（FMRP）在少突胶质细胞的发育和功能中起作用。中枢神经系统的髓鞘细胞。这些研究开始发现FMRP参与髓鞘相关基因的调节，如髓磷脂碱性蛋白，及其对少突胶质细胞前体细胞和少突胶质细胞成熟和功能的影响。这里,我们考虑FXS中白质异常的证据，回顾我们目前对FMRP在少突胶质细胞发育和功能中的作用的理解，并强调了我们对可能导致FXS白质异常的致病机制的认识差距。解决这些差距可能有助于确定新的治疗策略，旨在增强受FXS影响的个体的结果。
