The Autism News | English
Rett’s syndrome leaves sufferers with serious speech and mobility problems (BBC News)
By BBC News
Edinburgh Scientists probing a rare type of autism believe the “biological mechanism” behind the disorder may be simpler than was previously thought.
Rett’s syndrome leaves sufferers with serious speech and mobility problems. Mainly found in girls it affects more than 1,000 children in the UK.
Symptoms develop in children from the age of one.
Lab work suggests a faulty protein, which causes the condition to interact with all the genes in brain cells.
Until now experts believed it only affected a handful of genes.
Debilitating disorder
The discovery suggests the impact of the faulty gene – MeCP2 – may be similar in different types of brain cell.
Professor Adrian Bird, of Edinburgh University 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 study, funded by the Wellcome Trust, was published in the journal Molecular Cell.
Source: http://news.bbc.co.uk/2/hi/uk_news/scotland/edinburgh_and_east/8538401.stm
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