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Tuesday 25th June 2019

Brain signal deficits linked to autism

18th September 2012

Researchers in Germany say they have identified a key factor in the way that brain cells transmit signals and form pathways that is linked to symptoms commonly associated with autism.


Autism is a pervasive developmental disorder which affects brain development. It is usually evident in early childhood, currently around 1 in 100 children are thought to be affected.

According to research carried out by Professors Peter Scheiffele and Kaspar Vogt at the Biozentrum of the University of Basel, autism has been linked to a specific dysfunction in neuronal circuits.

Following their studies in mice, the researchers say they have also found a way in which the dysfunction may be reversed, paving the way for the development of drugs that could target autism.

Writing in the journal Science, Scheiffele and Vogt say their findings could help further research in the treatment of autism, a heritable condition in which people may experience fixed behavioural patterns, disabled social functioning,and restricted speech development.

To begin with, they targeted one of the mutations in more than 300 genes that are thought to be linked to autism.

Working with the pharmaceutical company Roche, the Basel team found a fault in the way signals are transmitted in the brains of mice that had had a certain gene -- that produces the substance neuroligin-3 -- switched off.

Neuroligin-3 plays a part in the transmission of electrical or chemical signals from one brain cell, or neuron, to another.

Mice without the gene for neuroligin-3 display characteristics that are the equivalent of autism in humans, and such mice also produce too much of a specific neuronal glutamate receptor.

An excess of such receptors affects brain functioning and development, over time, and means that fewer synaptic signals are transmitted during the learning process, in which new neuronal networks are forged, and in which new behaviours are learned.

When researchers reactivated the neuroligin-3 in the laboratory mice, the result was a drop in production of glutamate receptors in their nerve cells. The structural defects in the brain typical for autism then disappeared.

The team concluded that the glutamate receptors could be targeted in the development of drugs that could either prevent, or reverse, autism in adults and children alike.

Currently, autism has no cure, and is managed with behavioural therapy and other treatment.

However, some advocacy groups have warned that a focus on curing autism can lead to potential discrimination and rights violations of those on the autistic spectrum.

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