A new study out of Warwick University has revealed tantalizingly promising results that not only may be useful in the diagnosis of autism, but that hopefully point to specific mechanisms and causes of the neurodevelopmental disorder.
The study, published in Molecular Autism, shows that evidence of numerous types of unfinished protein production are in abundance in blood and urine proteins. These deranged proteins can arise due to problems with protein production by cells, including brain cells. The lead author, Dr Naila Rabbani, of the Warwick Medical School at the University of Warwick, says that she hopes the results can help uncover causes of autism.
Autism, or autism spectrum disorders, are caused in part by inherited genetic variation (1/3) and in part by environmental factors and de novo mutations, and interactions between genetic variation and environmental factors. The rate of ASD in the US is now estimated at 1/36.
When asked whether the study points to vaccines as a causal factor, Dr. Rabbani replied that because their study did not specifically address vaccines, she could not comment on whether vaccines could potentially be one of the environmental factors leading to protein derangement and autism diagnosis in some children.
The team’s research also confirmed the previously held belief that mutations of amino acid transporters are a genetic variant associated with ASD. The Warwick team worked with collaborators at the University of Bologna, Italy, who recruited locally 38 children who were diagnosed as having with ASD (29 boys and nine girls) and a control group of 31 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 study used machine learning algorithms, which can be prone to yielding overly optimistic results due to overtraining if the study did not use independent test validation samples, or if the study is small. The small study, which used internal 2-fold cross-validation, should be replicated with larger samples using independent test validation sets to test the generalizability of the biomarkers.
Summary: Autism may be diagnosable with a blood or urine test that studies the state of proteins. “Damaged” proteins may indicate a lack of amino acid availability, or influence of environmental factors on cellular protein production. Since proteins are encoded by genes, research is needed to determine whether vaccines cause some form of cellular damage that could impair proper protein production.
More information: Attia Anwar et al. Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis, Molecular Autism (2018). DOI: 10.1186/s13229-017-0183-3