Gene Research Leads to Possible Cures

In a recent experiment involving the MECP2 gene, a gene thought to be a major component in early brain development, mice were given a defective copy of the gene to induce symptoms of Rett Syndrome, the most physically debilitating form of autism. When an enzyme was used to correct the defective gene, the subjects exhibited striking improvements, even full recoveries in mice that were heavily affected and close to death. What is so amazing about these results is that it was previously believed that after improper development due to a malfunctioning MECP2 gene, disabilities could never be repaired- this experiment has turned that assumption upside-down.

Announced by the RSRF, or Rett Syndrome Research Foundation, the new findings from this recent study by Adrian Bird, Ph.D. once again prove that our understanding of the brain and its development is very weak, demonstrating that despite an abnormal development, the brains of adults affected with certain disorders could be repaired later in life. Until this point, it was generally accepted that neurological damage done during early development could never be reversed.

The mice that were tested not only experienced full physical recoveries, but were tested for LTP activity, or Long Term Potentiation. LTP was malfunctioning in mice that received a nonfunctioning copy of the MECP2 gene- upon correction of the gene, LTP functioned normally.

Individuals with Rett Syndrome, often girls, experience a variety of physical afflictions, including breathing problems, tremors, and a limited or nonexistent ability to walk correctly.

The research was published in the online version of the journal Science Express. It was conducted under the authority of Adrian Bird, Ph.D., who is Buchanan Professor of Genetics at the University of Edinburgh, Director of the Wellcome Trust Centre for Cell Biology, and Chairman of the RSRF Scientific Advisory Board. His lab work was carried out by Jacky Guy.

Posted by Jeremy