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07/18/2013
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University of Massachusetts study paves the way for future treatment of the condition
Child with Down syndrome does therapy with dolphins in the pool in Belarus. 'Shutdown' chromosome creates hope for treatment VIKTOR Drachev / AFP
NEW YORK. American scientists managed to "turn off" the chromosome responsible for Down syndrome in an experiment performed with human cells in the laboratory. The research, published in "Nature", paving the way for a revolution in the treatment of the condition in a few years.
Humans are born with 23 pairs of chromosomes, including two sex chromosomes that define (XX or XY), a total of 46 in each cell. People with Down syndrome have three - instead of two - copies of chromosome 21. This third chromosome causes symptoms such as learning difficulties, early onset of diseases such as Alzheimer's disease and an increased risk for heart and circulatory problems.
And it was precisely this chromosome "extra" that scientists were able to "turn off"
Gene therapy, which uses genes to treat, has been tested for problems caused by a single gene problematic. But until now, the idea of achieving the effects of silencing a whole chromosome appeared beyond the realm of possibility, even in the laboratory.
Scientists at the Medical School of the University of Massachusetts to demonstrate that, at least in theory, this perspective is also possible that light a few more decades.
The group of experts led by Jeanne Lawrence inserted a gene called XIST in stem cells of a person with Down syndrome cultured in the laboratory. The gene plays an important role in normal cell development to "turn off" one of the two X chromosomes present in female embryos, ensuring that girls do not have a double dose of X chromosomes
Experience has shown that the gene is also capable of silencing the extra copy of chromosome 21, helping to correct the irregular patterns of cell growth of the syndrome.
According to experts, many years of studies are necessary to achieve a treatment for the syndrome, but stress, research shows a new way to study the cellular basis of the condition and can help identify drugs that can reduce your symptoms.
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Source: The Globe - Online
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This article was translated by an automatic translation system, and was therefore not reviewed by people.