Sunday, September 09, 2012

"Junk" DNA: Could This Be the Unified Theory for Autism?

Article first published as "Junk" DNA: Could This Be the Unified Theory for Autism? on Technorati.
Boy with autism playing in shredded paper.The New York Times has a great article on research done on "Junk" DNA, or DNA sequences that are not genes. The article talks about the part of DNA that are not instructions for building proteins was was previously considered unnecessary appears to be active (at least 80% of it), and needed. This part of the genetic code acts as switches that determine how genes are interpreted, which are used, and ultimately can determine which cell becomes, say, "a liver cell or a neuron".

What's really interesting about these switches is how they are activated. It seems that environmental factors can change which switch is active, which is used, and how the body can be (or not be) prepared for illness. There have been at least 6 articles published in the journal Nature about these switches, and they have already have found links between them and diseases like multiple sclerosis, lupus, rheumatoid arthritis, Crohn's disease, and celiac disease (see links in the NYT article), and can even dictate a person's height.

After reading this article, I couldn't help but wonder: how do these switches relate to autism? The debate into causes of autism have been raging (and I'm one of the ragers, I know), and has divided a lot of research funding amongst many different theories. Right or wrong, it has been frustrating for parents, advocates, and politicians as everyone starts taking sides.

But when I hear that environmental changes can affect how switches are turned on and off, and I think about how much genetic evidence seems to be there for autism (in that certain genes need to be dominant, certain mutations need to happen, etc.), and tie that all into the various diseases already associated with these switches, I can't help but wonder if there is a direct correlation between many of the claims of autism causes and our "junk" DNA.

Now, please note, this is purely my speculation, but what if these switches are responsible for autism, or at least responsible for when those mutated genes that are associated with autism are activated? It would explain any environmental relationship with autism, it would also explain any autoimmune conditions that cause autism, and a lot of the other conditions that seem to be related to autism. And once we know the cause, we know where to look for treatment.

Now, again, this is purely speculation on my part, and there is no research to back this up. Please take it with a grain of salt until someone does research in this area. But it's exciting to me to think we are at the cusp of something so significant that could mean so much to us. Perhaps it is the answer, perhaps not. Still, I can't help but hope for the breakthrough that brings us all together under the same umbrella. Because once that happens, our internal squabbles can be put behind us and we can spend more resources on what's important: our children.

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