Understanding the Causes of Rett Syndrome

Certain key things are known about what causes Rett, which is a huge advantage in terms of trying to find treatments and a cure. We know that:

• It is a single gene disorder.
• It has been widely demonstrated to be reversible when the missing protein is replaced at adequate levels.
• The condition was demonstrated to be reversible, without anyone really knowing what the protein does

But, the actual function of the protein is not really known. Understanding what the protein does would be a huge advantage, in terms of designing rational treatment strategies for the condition. Depending on the function of the protein, there may be a number of ways to work around the problem.

The MECP2 Consortium was launched in 2012. Two papers from the MECP2 Consortium were published on June 16th 2013, in the Journals Nature Neuroscience and Nature.

The researchers found that a key function of MeCP2 protein is to make a bridge between methylated DNA and a protein complex called NCoR. If there is a disruption at either end of that bridge, we see Rett Syndrome.

Watch this video to understand this better!

http://www.reverserett.org.uk/what-we-do/research/understanding-the-causes/