A new study has paved the way for future research into the complex yet increasingly common condition, Rett syndrome.
This week, researchers at Massachusetts General Hospital (MGH) in the US published an article documenting tests performed on mice models of Rett syndrome, dubbed ‘Tsix-MeCP2’.
After creating female mouse models of the disease, researchers set out to examine the effects of the condition through a form of research known as X-chromosome (Xi) research.
Rett syndrome is typically caused by mutations in the MeCP2 gene in instances where an X chromosome carrying this mutation is activated at random.
However, the team at MGH introduced what is known as an ‘X-inactivation mutation’ or ‘Tsix’ into mice models of the disease – which effectively increased the penetrance of Rett syndrome, but also helped to regulate the process of X chromosome inactivation.
According to researchers, their study proved that “5-10 per cent normal MeCP2 protein in the brain resulted in improved motor skill and extended lifespan 5-8 fold.”
This indicates that there is a possible therapeutic benefit in instances where MeCP2 protein levels do not reach 100 per cent in every brain cell.
Dr Jeannie T. Lee MD PhD, who led the study, said: “A most exciting finding to arise from the mouse model which has not been so easy to recapitulate in other systems is the repetitive and self-injurious behaviours that typify Rett Syndrome.
“Our female mouse model now sets the stage for us to test candidate drugs for the X-reactivation approach that we have been building towards for the past several years.”
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