Gene finding linked to brain disorder

Scientists at the University have made fresh discoveries about the cause of a rare but devastating neurological disorder.

Researchers from Edinburgh working with a team from Harvard University have uncovered a key detail about the gene responsible for Rett syndrome.

This incurable condition affects mainly girls, with profound consequences for mental development.

Cause of condition

These new findings are a significant step in our understanding of the causes of this condition at a molecular level.

Professor Adrian BirdSchool of Biological Sciences

Scientists studying the MeCP2 gene have previously identified an area of the protein formed by this gene where mutations, or flaws, can occur, giving rise to Rett syndrome.

Now, a new study published in Nature Neuroscience has highlighted a second area of the protein that is linked to occurrence of the syndrome.

Mutations in this part of the protein prevent it from interacting properly with an important secondary protein that silences genes.

As a result, the activity of many genes is disturbed.

Bridging protein

A second new study, published in Nature, outlines how this newly identified protein interaction is regulated.

Firing of neurons in the brain switches off the interaction with the gene-silencing protein.

Scientists say that the two key parts of the MeCP2 protein act like the ends of a bridge, and both ends must be in good order for the protein to function properly

Disruption to either end of the bridge will give rise to Rett syndrome.

The research was supported by the Rett Syndrome Research Trust and the Wellcome Trust.

The hope is that improved knowledge of how this crucial gene affects the brain will allow us to one day develop ways of treating Rett syndrome.

Professor Adrian BirdSchool of Biological Sciences