作者
Giorgio Pini, Maria Flora Scusa, Laura Congiu, Alberto Benincasa, Paolina Morescalchi, Ilaria Bottiglioni, Pietro Di Marco, Paolo Borelli, Ubaldo Bonuccelli, Andrea Della-Chiesa, Adriele Prina-Mello, Daniela Tropea
发表日期
2012
期刊
Autism research and treatment
卷号
2012
期号
1
页码范围
679801
出版商
Hindawi Publishing Corporation
简介
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl‐CpG‐binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin‐like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1–3) IGF1, cross the blood brain barrier, and (1–3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish …
引用总数
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