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Autism linked to fewer brain connections

29th November 2011

Researchers in the US and Japan have paved the way for a drug which may one day be able to reduce the expression of autistic traits in autistic spectrum disorders (ASDs).

Lonely Boy

They have contributed to people's understanding of the way ASDs develop, and have also confirmed past studies that show autism results from decreased communication between the 'left brain' and the 'right brain'.

Using stem cells, the researchers were able to change the brain activity of people who have Timothy Syndrome, an extremely rare autistic condition which only affects about 20 people worldwide.

Lead researcher Ricardo Dolmetsch said that the abnormalities found by the researchers for people suffering from Timothy Syndrome were in line with assumptions about other forms of autism.

People with Timothy Syndrome often experience a range of symptoms, some of which are physical and some of which are psychological.

In general, the syndrome causes heart rhythm problems, developmental delay, and communication difficulties that are often found in autistic spectrum disorders.

Due to the severity of the heart problems involved in Timothy Syndrome, sufferers of the condition usually die in childhood.

But unlike other autistic spectrum disorders, Timothy Syndrome is caused by a particular gene mutation, making it more suited to cause-and-effect analysis.

Due to a non-functional protein, the cells of people who have Timothy Syndrome do not produce enough calcium ions to transmit electrical signals to each other.

In the brains of Timothy Syndrome sufferers, the disrupted electrical flow causes reduced communication between the various areas of the brain, especially the corpus callosum.

For the study, the researchers made use of a complicated process that grows brain cells from skin cells.

Dolmetsch said that he and his colleagues developed a way of taking skin cells from humans with Timothy Syndrome and converting them into stem cells, and then converting those stem cells into neurons.

After growing brain cell tissue, they examined the way the neurons processed calcium ions.

In the petri dishes, the Timothy Syndrome brain cells had high spikes of calcium ions, suggesting that the cells of people with Timothy Syndrome do not know how to turn themselves off.

The cells also had very high levels of an enzyme involved in the body's own production of two important molecules, dopamine and norepinephrine.

The finding could lead to new drug treatments for people with autism spectrum disorders, and the researchers are already at work on a drug that partially helped the brain cells grown in the lab.

 

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