Rett Syndrome strikes little girls almost exclusively, with first symptoms usually appearing before the age of 18 months. These children lose speech, motor control and functional hand use, and many suffer from seizures, orthopedic and severe digestive problems, breathing and other autonomic impairments. Most live into adulthood, and require total, round-the-clock care. Almost 10,000 children are diagnosed with Retts every year.
Previous research conducted into Retts by British geneticists demonstrated that most frequent cause is the mutation of an X chromosome gene called MECP2, explaining why girls are most likely to be diagnosed with Retts. Previous studied conducted regarding Retts, has isolated a gene called MEPC2. The new research will be a collaboration between UK and American scientists, warranted by symptom decline in the tested mice.
“Because MECP2 binds to DNA throughout the genome, there is no single gene currently that we can point to and target with a drug. Therefore the best chance of having a major impact on the disorder is to correct the underlying defect in as many cells throughout the body as possible. Gene therapy allows us to do that.”
Explained lead author Dr. Gail Mandel, a Howard Hughes investigator at Oregon Health and Sciences University, speaking to Medical Daily on August 20.
Research in 2007, proved unsuccessful in effecting the gene, but the recent study used a virus to correct the genome in affected cells. The virus, which is not harmful to humans, was used successfully. Co-author Saurabh Garg said:
“We learned a critical and encouraging point with these experiments – that we don’t have to correct every cell in order to reverse symptoms. Going from 50% to 65% of the cells having a functioning gene resulted in significant improvements”
The astonishing finding has warranted this research which could become clinical practice in future years.