The Roots of Brain Diseases: One Team Finds 1,400 Culprits

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Scientists are always trying to discover genetic origins of disease, and this week, one team announced a significant breakthrough. Along with six colleagues, Alex Bayes of the Wellcome Trust Sanger Institute reported in the journal Nature Neuroscience that they had uncovered the genetic mutations that lead to an astonishing 133 brain diseases, from Alzheimer’s and Parkinson’s to epilepsy.

They reported that the mutations occur in 1,461 proteins in the neocortex, the top layer of the brain. In that layer, synapses in brain cells possess remarkable density, which means the slightest genetic change to them can result in extraordinary — often fatal — consequences. (More on Amnesia and a Camera: Photos as Memories)

Genes are usually considered to be immutable, but as the emerging science of epigenetics is showing, one’s genes can be altered in a single lifetime. In the new paper, the scientists prove that even minute changes to proteins can activate genes that lead to serious brain diseases.

Still, there are a couple of caveats. The study was very small: just nine people had their neocortexes analyzed. (More on The Lab Rat: How to Improve Memory in 15 Minutes)

And any treatment for the brain diseases is years away. The scientists may have identified the proteins that are twisted around to lead to disease, but they don’t yet know how to prevent them from going astray.

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