Major Breakthrough on Understanding Infections & MECP2 Duplication

stm_cover_dec5 The cover story in this weeks Science Translational Medicine reports on a new study that provides knowledge that is a critical first step in understanding the immune deficiency among individuals with MECP2 Duplication. Researchers found that both children and adults with the syndrome and lab mice with MECP2 Duplications lacked the ability to produce gamma interferon from specific T cells.

For those families who took part in the research study at the 2011 MECP2 Duplication Family Conference, your participation played an important role in this study. The MECP2 Duplication mice also play an important role because demonstrating this problem in these mice makes it clear that this is an effect of duplicated MECP2 genes and not other duplicated genes, which may or may not have some additional role.

These research results have the potential play an important part in progress toward preventing and treating infections in individuals with MECP2 Duplication Syndrome.

According to Medical Express, Dr. “Ramocki credits the response of the families of the youngsters with MECP2 duplication syndrome and the power of social media with making the study possible. Forty-five families from four different continents attended a conference on the disorder in May 2011. All communication was via the web and social media. The conference enabled researchers to collect samples from the children with the disorder, their siblings and parents for use in the research.”Read more at:


Tianshu Yang, Melissa B. Ramocki, Jeffrey L. Neul, Wen Lu, Luz Roberts, John Knight, Christopher S. Ward, Huda Y. Zoghbi, Farrah Kheradmand, David B. Corry. (2012, Dec 5). Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses. Science Translational Medicine, 4 (163), DOI:10.1126/scitranslmed.3004430.


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