Skin Cell Research: Identifying Genetic Proof to Autism

While the argument between environment and genetics wage on in the blogosphere, researchers at the University of California, San Diego have found an interesting way to test genes:  reprogram skin cells into stem cells and regrow them at neurons.  The research is interesting, and is found in the journal Cell.

Essentially, they took skin cell samples from children with Rett syndrome, which is on the Autism Spectrum.  They then reprogrammed the skin cells using pluripotent stem cells to regrow into neurons that were functional.  So, a brain in a dish (and who said cartoons were outrageous!).  They then noticed that the Rett cells grew with fewer neuron synapses and had a reduced spine density, while those from the control group had increased neuron synapses and spine density.  All because of a change in the MeCP2 gene. 

So what does this mean?  It means Rett syndrome is not caused by bad parenting or by environmental stimuli.  It's caused by a gene, one gene, that controls brain neuron growth and spine density.  Environmental causes, vaccines, monosodium glutamate, too much TV, parents who don't care about their kids, it's all been shown as false by this one test. 

And what's even more exciting is that the Rett neurons could be "rescued" by the change of the MeCP2 gene, adding the IGF1 gene, and gentamicin.  That on existing cells, not at the developmental stage.  That means, given time to produce this properly, there could be treatment for Rett syndrome. 

But, before we get ahead of ourselves, Rett syndrome isn't Aspergers, or PPD, or any of the other conditions on the Autism Spectrum.  It's just one condition of many.  Remember that Autism in and of itself is not a medical definition (meaning that it is caused by one thing, like say the flu), but rather a psychological definition applied based on a string of behaviors.  While this treatment would work for Rett syndrome, I wouldn't expect it to work for Fragile-X syndrome (which also has Autism-like behaviors). 

Instead, I see this as a positive sign, and yet another reason why insurance companies need to start covering Autism as both a diagnosis, and provide support for treatment.  Because there could soon be a medical treatment that will assist individuals on the Autism Spectrum, and they need to get behind it.