Fresh insight into the cause of an autism spectrum disorder could aid the search for treatments for the condition, which affects more than 1,000 girls in the UK.
Scientists investigating Rett syndrome, which can leave girls unable to walk or talk properly, believe the biological mechanism behind the disorder may be simpler than was previously thought.
Researchers at the University of Edinburgh found that a faulty protein which causes the condition interacts with all the genes in brain cells, contradicting previous thinking that the protein affected only a handful of genes.
The discovery suggests that impact of the faulty gene, known as MeCP2, may be similar in different types of brain cells.
Symptoms of Rett syndrome, which affects mainly girls, develop at around one year of age. They include poor communication skills and reduced mobility. Those affected may also suffer seizures, digestive and breathing problems and often need constant care.
The study, funded by the Wellcome Trust, was published in the journal Molecular Cell.
Professor Adrian Bird, who led the study, said: “This debilitating disorder is caused by a protein that is much more abundant in brain cells than we had realised and can therefore interact with the entire human genome, rather than with a few selected genes.
“It may be that, in Rett patients, many brain cells share a generic defect – which would mean this disease is less complicated than we feared. More work is needed to investigate this possibility.”
The image shows the results of high-throughput DNA sequencing and confirms genome-wide MeCP2 binding. Figure 4 from Skene et al., Molecular Cell, 37(4), 457-468 (2010).
Prof Adrian Bird, School of Biological Sciences, tel 0131 650 5670; email A.Bird@ed.ac.uk
Catriona Kelly, Press and PR Office, tel 0131 651 4401; email Catriona.Kelly@ed.ac.uk
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