Autism: Scientists May Be Able To Explain A Third Of All Cases

The discovery could help researchers develop a treatment.

The scarcity of a single protein in the brain could explain as many as a third of all cases of autism, according to a new study.

Researchers in Canada are hopeful that the discovery could help them develop a treatment for the disorder, which affects more than one in 100 people.

To investigate the effect of the protein, scientists at the University of Toronto lowered levels in mice, which induced autistic-like behaviour.

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“We previously reported an association between nSR100 protein levels and autism. But this time we show that reduced levels of this protein could really be causative – that’s a big deal. Just by reducing the nSR100 levels by 50 per cent, we observe hallmarks of autistic behaviour,” said Professor Sabine Cordes.

Autism’s origins are genetic, but doctors only know the specific causes in a fraction of cases which fall under autism spectrum disorder.

The protein identified by researchers is a key regulator of alternative splicing, which generates a huge range of proteins, the building blocks of cells.

Autism could in part stem from an accumulation of incorrectly spliced proteins, which lead to mistakes in brain wiring, according to the study.

The researchers are now hopeful that exposing people with the disorder to the protein could help alleviate symptoms.

“Instead of focusing on individual mutations linked to autism, it’s much more powerful to identify regulatory hubs like nSR100,” said Professor Benjamin Blencowe.

“In the future, if you turned this protein up a little bit in autistic patients, you might be able to improve some of the behavioural deficits” said Cordes.

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