Reversal of autism-like disorder
19 February 2008
Rett syndrome is an autism-like disorder caused by the mutation of a single gene - MECP2. Although the function of nerve cells is clearly affected, they do not die as in neurodegenerative conditions such as Alzheimer’s. A key question, then, is: can the brain’s developmental abnormalities be reversed? Working with a mouse model, Professor Adrian Bird and colleagues at the University of Edinburgh have uncovered remarkable evidence that they can.
Professor Bird’s team has been studying the MECP2 gene for several years. It encodes a protein that regulates the activity of other genes. Mutations in the gene affect around 1 in 10 000 girls, and causes distressing physical symptoms, including loss of movement, abnormal breathing patterns and difficulty with speech. Many children display an abnormal, stiff-legged gait and some become confined to a wheelchair.
Professor Bird’s team created a mouse model of this disease by silencing the expression of MECP2. To their surprise, the Rett-like symptoms these mice developed disappeared when the gene was reactivated.
This implies that the effects of the Rett syndrome mutation are not permanently wired into the brain. If this is also true in people, it might be possible to reverse the symptoms of Rett syndrome by reactivating the MECP2 gene (although the approach used in mice is not one applicable to people).
More generally, the study raises hopes that a range of human neurodevelopmental disorders might be reversible.
Further reading
- Guy J et al. Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007;315(5815):1143-7.