Dr. Adrian Bird discusses what MeCP2 has to do with Rett Syndrome, and researchers still have a long way to go towards understanding the human brain.
MeCP2, Rett Syndrome and Getting to Know the Brain with Dr. Adrian Bird
I think the protein we work on, MeCP2, which recognizes methylated DNA, we knew it recognized methylated DNA. And we know that when it’s mutated, you get Rett Syndrome. But we don’t really know the set of causal steps between having that mutation and getting Rett Syndrome. And I think some recent findings that we’ve made now tell us that it doesn’t just bind methylated DNA. It binds this enormous chromatin modifying machine.
And the mutations that cause Rett Syndrome either stop it from binding to methylated DNA, or they stop it from binding to this big machine, suggesting that it actually functions as a bridge between these two things. So I’m interested in that because it’s allowing us to creep closer to what’s really wrong in a disease of someone with Rett Syndrome.
Unfortunately, what you’re banging against in trying to link the biochemistry with the pathology is our ignorance about the brain. We don’t know a hell of a lot about the brain. And if you’re going to draw this unbroken link from the mutation to the autism spectrum disorder that Rett Syndrome is, you need to know more about the brain than we do.
But my view is an optimistic one. That actually, by probing brain function through these specific mutations that cause disease, we will actually learn about the brain. And that’s what excites me, and not having been trained as a neuroscientist. But the idea that one can wade in as an ignoramus, armed with your gene of interest and a profound disease as your incentive, that you can start getting stuck into the mechanisms of brain function.