Abnormal mTOR Activation in Autism

作者：Kellen D. Winden, Darius Ebrahimi‐Fakhari, Mustafa Şahin · 发表于：Annual Review of Neuroscience · 年份：2018 · DOI：10.1146/annurev-neuro-080317-061747 · 被引用次数：235 · 研究领域：Genetics and Neurodevelopmental Disorders、Autism Spectrum Disorder Research、Congenital heart defects research

The mechanistic target of rapamycin (mTOR) is an important signaling hub that integrates environmental information regarding energy availability and stimulates anabolic molecular processes and cell growth. Abnormalities in this pathway have been identified in several syndromes in which autism spectrum disorder (ASD) is highly prevalent. Several studies have investigated mTOR signaling in developmental and neuronal processes that, when dysregulated, could contribute to the development of ASD. Although many potential mechanisms still remain to be fully understood, these associations are of great interest because of the clinical availability of mTOR inhibitors. Clinical trials evaluating the efficacy of mTOR inhibitors to improve neurodevelopmental outcomes have been initiated.