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Rett Syndrome Mutation
Rett syndrome is an X-linked neurological disorder caused by mutations in the MeCP2 gene which codes for the methyl CpG binding domain protein. The disease is seen almost exclusively in girls, since boys carrying the MeCP2 mutation do not survive.
The MeCP2 proteins are thought to bind to the promoters of certain genes or be involved in chromatin remodeling. How this causes the severe neurological dysfunction seen in girls with RTT syndrome is not yet fully understood and is the subject of current research.
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Rett Syndrome Facts
- Rett syndrome is rare, with an incidence of around one in 15,000 live births.
- Rett syndrome was first described in the medical literature in 1966 by an Austrian doctor, Dr Andreas Rett. However it was not until a second report of the condition in 1983 that the syndrome was properly recognized.
- Girls with Rett syndrome develop normally until 6-18 months of age, after which an autistic stage develops. At this time, many RTT girls start to lose acquired skills including cognitive, motor and social. Children with Rett syndrome often develop characteristic behaviors such as hand wringing and clapping, to the extent that they lose purposeful use of their hands.
- A pseudo stabilization period is often seen, whereby the disease appears not to progress. This stage can vary and may last for years in some girls. However this is generally followed by a period of further deterioration. Seizures and hyperventilation are common during this stage.
- Due to the inactivation of one X-chromosome in female mammalian cells, the severity of the disease between patients is highly variable.
- Rett syndrome life-expectancy: prognosis for children with Rett syndrome with regard to life-span is highly variable, with some patients living well into their 60s.
- There are many indications that the field of Rett syndrome research could progress rapidly. This is due to some significant recent breakthroughs in understanding the mechanisms underlying the condition.
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Although girls with Rett syndrome show a distinctly different pathology to autistic individuals, they frequently exhibit autistic-like behavior e.g. repetitive hand movements, sleep disorders, body rocking and poor social skills.
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Rett Syndrome Treatment
At present no cure exists for this devastating condition. However, certain interventions can improve the quality of life for some girls with RTT. For example, new treatments aimed at improving the respiratory symptoms of children with Rett syndrome are being developed.
The creation of calming yet stimulating environments are believed to improve cognitive development and alleviate distress.
Hopefully, co-ordinated research efforts will provide a brighter outlook for children with Rett syndrome in the future.
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Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches. L.Ricceri, B.De Filippis, G.Laviola. Behavioural Pharmacology, 2008, Vol 19, P501-517.
Epigenetic mechanisms in neurological diseases: genes, syndromes and therapies. R.Urdinguio, J.Sanchez-Mut, M.Estella. Lancet Neurology, 2009, Vol 8, P1056-72.