29 October 2009 – The relationship between MECP2 Duplication syndrome, Rett Syndrome, and autism appears to be a complex one. Boys with MECP2 Duplication syndrome and girls with Rett syndrome clearly have autistic features associated with atypical MECP2 genetics. In some other cases of autism, atypical MECP2 genes also seem to be implicated. It has generally been believed, however, that most autism was not related to the MECP2 gene or its expression.
An article in a recent edition of the Johns Hopkins News-Letter suggests that all autism may be traced to dysfunction of the MECP2 gene and its effect on neuronal development:
As Alicia Degano, R. Jeroen Pasterkamp, and Gabriele Ronnett and others have begun to realize, in Autism spectrum disorders, including Rett Syndrome, which is on the spectrum, neurons aren’t getting to where they need to go. They aren’t making the right connections. They aren’t coming together to form nerve tracts, and they aren’t being guided to their proper target cells. These Hopkins researchers believe that this malfunction can be tied to a mistake in one gene, called MeCP2.
Only time will tell whether this line of research and interpretation will be validated. In the meantime, however, it is likely that more research will be focused on the role of the MECP2 gene.