Scientists at Osaka University have discovered a potential marker within our DNA that could be used to predict complex diseases such as schizophrenia and even autism.

Currently, predicting these two diseases in asymptomatic patients is almost impossible.

However the team at Osaka decided to look for what would essentially be a needle in a haystack, a small genetic mutation that could be associated with both.

That’s exactly what they found. By closely studying a single gene in over 7000 patients with schizophrenia and autism and neither they were able to find a miniature but key difference.

What they found was a single mutation which manifested as an amino acid switch from alanine to threonine.

“Rare variants alter gene function but occur at low frequency in a population. They are of high interest for the study of complex diseases that have no clear mutational cause,” explains Osaka University Professor Toshihide Yamashita, who added the alanine threonine substitution was a rare variant.

The amino acid switch within this single gene was more than enough to disrupt one of the gene’s key functions, to initiate cellular signalling.

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According to Yamashita this is the first instance where scientists have been able to make a connection between a certain type of cell in the brain with neurodevelopment disorders.

As such he hopes that now the connection has been made, this could eventually lead to a reliable form of predictive diagnosis.

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