BREAKING NEWS!  MECP2 Duplication is Reversible!

 ​In a Nature article published online today, November 25, 2015, it was revealed that researchers at the Baylor College of Medicine, led by Dr. Huda Y. Zoghbi, have reversed MECP2 Duplication Syndrome in adult symptomatic mice using antisense oligonucleotide (ASO) therapy. In this landmark letter to Nature, mice treated with an experimental ASO administered through the central nervous system experienced the reduction of MECP2 protein to normal levels. Many impressive results were observed. Several behavioral tests were conducted, and in all cases, symptoms of hypoactivity, anxiety, and abnormal social behavior were resolved. Additionally, the seizure activity of the mice and abnormal EEG discharges were abolished. Lastly, initial studies demonstrated that reducing the MECP2 protein levels to the correct amount also normalized the expression of the other genes controlled by the MECP2 protein. Excitingly, the ASO was also administered to lymphoblastoid cells from MECP2 Duplication Syndrome patients, and MECP2 mRNA levels were restored to the correct concentration in these cells.  Read More.

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