Rare syndrome helps to establish the cause of autism
U.S. scientists hope to unravel the nature of autism, studying a rare disease – "Timothy syndrome". This genetic disorder of the heart, in which theres syndrome prolongation QT. In 80% of patients develop autism. The average length of life – 2.5 years. In the world we know only about 20 cases of this syndrome.
According to BBC, a team of scientists at Stanford University decided to explore the brain cells of patients with "Timothy syndrome" to find out the causes of autism. For this, they have taken from sick children skin cells, which are then grown in a laboratory brain cells (neurons).
Next, the researchers compared the neurons grown with the same cells taken from healthy people, and found distinct differences. Healthy neurons developed into different subtypes that are suitable for use in different areas of the brain. And neurons sick "Timothy syndrome" have been adapted to deal mainly in the upper part of the cerebral cortex, and to a lesser extent – in the bottom, which is called the corpus callosum and is necessary for the interaction of the left and right hemispheres of the brain.
In of abnormal neurons produces too much of a chemical associated with the production of dopamine and norepinephrine, which play an important role in sensory information processing and social behavior. p>
Using the experimental drug scientists have managed to significantly reduce the number of defective neurons to their stage of development . So, once the drug can be used to treat patients directly. While this can not be done because of the side effects that it causes in children.
At the same time, British researchers remind: "Timothy syndrome" – is just one form of autism, so the findings of this experiment can not be generalized to all people with autism.