Gene Editing to the Rescue: Reversal of Social Deficits Associated with MECP2 Duplication

• 来源期刊: 神经科学通报（英文版）
• 年，卷（期）: 2020,（6）
• 页码范围: 567-569
• 页数: 3页
• 语种: 英文

摘要

Methyl-CpG-binding protein 2 (MeCP2) is broadly recognized as the genetic cause of Rett Syndrome (RTT), a devastating neurodevelopmental disorder with the progressive loss in motor skills and speech that is found almost exclusively in young girls [1, 2].Over 95％ of RTT patients carry loss-of-function mutations in the X-linked MECP2 gene, while the same mutations in males largely lead to infantile death.Still, micro-duplications of the X chromosome segment that encompasses the MECP2 gene give rise to another neurological disorder known as MeCP2 duplication syndrome (MDS) that predominantly affects males,with symptoms including autistic features, seizures, profound intellectual disabilities, recurrent infections, hypotonia, and impaired social interactions.