雷帕霉素治疗结节性硬化症和自闭症谱系障碍。
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders.
机构信息
DZNE, German Center for Neurodegenerative Diseases, Ludwig-Erhard-Allee 2, 53175 Bonn, Germany.
出版信息
Trends Mol Med. 2011 Feb;17(2):78-87. doi: 10.1016/j.molmed.2010.10.002. Epub 2010 Nov 4.
Abstract
Tuberous sclerosis (TSC) is a genetic disorder caused by heterozygous mutations in the TSC1 or TSC2 genes and is associated with autism spectrum disorders (ASD) in 20-60% of cases. In addition, altered TSC/mTOR signaling is emerging as a feature common to a subset of ASD. Recent findings, in animal models, show that restoration of the underlying molecular defect can improve neurological dysfunction in several of these models, even if treatment is initiated in adult animals, suggesting that pathophysiological processes in the mature brain contribute significantly to the overall neurological phenotype in these models. These findings suggest that windows for therapeutic intervention in ASD could be wider than thought previously.
摘要
结节性硬化症（TSC）是一种由 TSC1 或 TSC2 基因突变引起的遗传疾病，在 20-60%的病例中与自闭症谱系障碍（ASD）相关。此外，TSC/mTOR 信号的改变正成为 ASD 亚组的一个共同特征。最近的研究结果表明，在动物模型中，恢复潜在的分子缺陷可以改善这些模型中的几种神经功能障碍，即使在成年动物中开始治疗，这表明成熟大脑中的病理生理过程对这些模型的整体神经表型有重要贡献。这些发现表明，自闭症治疗干预的窗口期可能比以前认为的更宽。
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