MECP2 缺乏症模型中的神经胶质功能障碍：对雷特综合征的影响。
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome.
机构信息
School of Neuroscience, Virginia Polytechnic and State University, Life Sciences I Building Room 212, 970 Washington St. SW, Blacksburg, VA 24061, USA.
Department of Cell, Developmental, and Integrative Biology, University of Alabama at Birmingham, 1918 University Blvd., Birmingham, AL 35294, USA.
出版信息
Int J Mol Sci. 2019 Aug 5;20(15):3813. doi: 10.3390/ijms20153813.
Abstract
Rett syndrome (RTT) is a rare, X-linked neurodevelopmental disorder typically affecting females, resulting in a range of symptoms including autistic features, intellectual impairment, motor deterioration, and autonomic abnormalities. RTT is primarily caused by the genetic mutation of the Mecp2 gene. Initially considered a neuronal disease, recent research shows that glial dysfunction contributes to the RTT disease phenotype. In the following manuscript, we review the evidence regarding glial dysfunction and its effects on disease etiology.
摘要
雷特综合征（RTT）是一种罕见的 X 连锁神经发育障碍，通常影响女性，导致一系列症状，包括自闭症特征、智力障碍、运动恶化和自主神经异常。RTT 主要由 Mecp2 基因突变引起。最初被认为是一种神经元疾病，最近的研究表明胶质功能障碍有助于 RTT 疾病表型。在下面的手稿中，我们回顾了有关胶质功能障碍及其对疾病病因影响的证据。
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