New biomarkers proposed for earlier diagnosis of autism

Researchers at the University of Warwick have developed new blood and urine tests to indicate those with autism. The biomarkers in blood and urine could lead to earlier detection of autism spectrum disorders (ASD) and consequently children with autism could be given appropriate treatment much earlier in their lives. The findings are published in Molecular Autism.

The team was led by Dr Naila Rabbani, Reader of Experimental Systems Biology at the University of Warwick who said: Our discovery could lead to earlier diagnosis and intervention.We hope the tests will also reveal new causative factors. With further testing we may reveal specific plasma and urinary profiles or “fingerprints” of compounds with damaging modifications. This may help us improve the diagnosis of autism spectrum disorders  and point the way to new causes of autism spectrum disorders .”

The team  found a link between autism spectrum disorder and damage to proteins in blood plasma by oxidation and glycation processes where reactive oxygen species (ROS) and sugar molecules spontaneously modify proteins. These advanced glycation end products and and oxidation marker dityrosine were found higher in children with autism spectrum disorder. The team’s research also confirmed the previously held belief that mutations of amino acid transporters are a genetic variant associated with autism spectrum disorder.

The Warwick team worked with collaborators at the University of Bologna, Italy, who recruited locally 38 children who were diagnosed as having with autism spectrum disorder (29 boys and nine girls) and a control group of 31 healthy children (23 boys and eight girls) between the ages of five and 12. Blood and urine samples were taken from the children for analysis.

The Warwick team discovered that there were chemical differences between the two groups. Working with a further collaborator at the University of Birmingham, the changes in multiple compounds were combined together using artificial intelligence algorithms techniques to develop a mathematical equation or “algorithm” to distinguish between autism spectrum disorder and healthy controls. The outcome was a diagnostic test better than any method currently available.

The next steps are to repeat the study with further groups of children to confirm the good diagnostic performance and to assess if these biomarker tests can identify autism spectrum disorder at very early stages, indicate how the autism spectrum disorder is likely to develop further to more severe disease and assess if treatments are working.

Citation: Anwar, Attia, Provvidenza Maria Abruzzo, Sabah Pasha, Kashif Rajpoot, Alessandra Bolotta, Alessandro Ghezzo, Marina Marini, Annio Posar, Paola Visconti, Paul J. Thornalley, and Naila Rabbani. “Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism – a source of biomarkers for clinical diagnosis.” Molecular Autism 9, no. 1 (2018). doi:10.1186/s13229-017-0183-3.

Research funding: Naila Rabbani – Warwick Impact Fund, Marina Marini – Fondazione del Monte di Bologna e Ravenna, Fondazione Nando Peretti.

Adapted from press release by the University of Warwick.

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