Rett Syndrome (RS) is one of the most disabling autism spectrum disorders. It affects Around 10,000 children in the UK i.e. 1 in every 10,000 to 15,000 children. RS is an untreatable neurological disorder that leaves sufferers severely disabled. The symptoms start showing up at the age of 18 months and include repetitive movements, seizures and problems with breathing and controlling motor functions like losing speech and the ability to move easily.

Professor Adrian Bird, who led the study, had previously discovered that RS was caused by a mutant form of the gene Mecp2, which works by switching other genes on and off.

They have now managed to reverse the symptoms of Rett Syndrome in mice by targeting this specific gene and switching it back on. Even to their surprise, the symptoms began reversing straight away. Motor control and breathing improved and within weeks it was difficult to tell which mice had once had RS and which had not.

By doing this, the scientists showed that the Rett Syndrome was not caused by an abnormal development but by a malfunction that can be fixed.
There is hope that these new finding will help to develop gene therapies to suppress the mutated version of Mecp2 or drugs to suppress the action of proteins coded by a mutant Mecp2.

The finding is certainly exciting when one thinks that there’s a possibility of reversing other neurological disorders with similar causes. This specific finding represents a big step toward developing future therapies and gives hope to the families affected by Rett syndrome.