Understand the brain Autism

Cells of people with a rare syndrome associated with autism may help to explain the emergence of the disease, scientists suggest.

Stanford University team of skin cells with the "Timothy syndrome in the mid-brain cells in all respects.

The abnormal activity in these cells can be partially corrected by using an experimental drug, reports Nature Medicine.British researchers warned the results may not apply to all people with autism.

Compared to the hundreds of thousands of people around the world think shows the characteristics of autism, "Timothy syndrome" is negligible few, about 20 people around the world.

People with the syndrome often exhibit autistic behavior, including problems with social development and communication.

Because it is caused by a single genetic defect, rather than a combination of small genetic defects, each with a small contribution, presents a useful target for scientists seeking to investigate what goes wrong in brain development autistic children.

Ready for work

U.S. researchers have used a recently developed technique of brain cells called neurons to produce a single sample of patient's skin.

This allowed them to explore their development in the laboratory, and also used to test potential treatments.

They found clear differences between the cultured neurons in patients with Timothy syndrome and healthy "control" subjects.

Developed in different subtypes of neurons healthy, ready to work in different brain regions.

In contrast, the share of developing neurons for each subtype was different in samples of Timothy syndrome - are no longer able to work in the upper cortex and less in the background.

This meant that there were fewer neurons are capable of working in a part of the brain called the corpus callosum, the role of helping the left and right "hemispheres" of the brain to communicate.

These differences have repeated those observed in mice specially bred with a genetic defect in Timothy syndrome.

In addition, too many neurons to a particular chemical in the body related to the production of dopamine and norepinephrine, which play an important role in sensory processing and play a social behavior.

Dr. Ricardo Dolmetsch, who led the study, said that the abnormalities were consistent with other evidence that autism is in part because of poor communication between different parts of the brain.

The team was able to significantly reduce the number of these neurons fail with the addition of a drug as they have developed.

This, they say, meant that it was possible one day to the absence of an actual patient treatment, although drug use at the time was not appropriate for children because of adverse events.

The National Autistic Society has given a cautious welcome result, but warned that they are not necessarily in any form of autism insights to offer.

Researcher Georgina Gomez said: "Timothy syndrome is only a form of autism, and these results give only a very narrow view of what could cause the disorder.

"More work must be done to support this research project."