University Asst. Medical Prof. Jessica Connelly and researchers at Duke University have discovered a possible link between autism and genes that are turned on and off in DNA.
The research, which was co-led by Duke Medical Asst. Prof. Simon Gregory, focused on genetic differences between autistic patients and a control group. Connelly noted that they found that regions containing the gene OXTR, which has been previously connected with autism, were especially prone to being different among autism patients.
Although their research still needs to be replicated with a much larger sample, Connelly said the link could be a target for drug modification and thus possibly reduce disease.
The researchers first identified the deletion of the OXTR gene in an autistic patient and examined his family to see if that deletion was also present, Connelly said. It turned out that his brother was also autistic but did not have the deletion.
"Most people would say this means it's not relevant, but we hypothesized that there are other mechanisms through which you lose expression of OXTR," Connelly said.
Connelly and Gregory identified a high level of methylation - when a chemical group attaches to the DNA, usually to silences genes - of the OXTR gene in the brother.
Inheritable genetic changes like this that do not show up in the DNA sequencing are called epigenetics, Gregory said.
"We should be able to see methylation of people with autism in this locus in the general sample," Connelly said.
Connelly and Gregory initially tested 119 people with autism, eventually focusing on 20 autistic individuals and 20 controls to find the same elevation of methylation in the region of OXTR.
They also checked available brain tissue samples of autistic people and found similar results.
Connelly cautioned that the team's findings would not necessarily lead to improved treatment and added that only some autistic patients had this methylation. Others were actually missing the OXTR gene, which she said would make these patients' conditions more difficult to treat.
The OXTR gene, which is a receptor for the trust hormone oxytocin, has been shown to improve the ways in which autistic individuals interact with others, Gregory said. He added that oxytocin has been used in drugs to treat autism but is very short-lasting and not a cure.
He said the important part of the research was simply to recognize the pathways involved in autism.
"This is a very novel finding," Connelly added. "It suggests an epigenetic mechanism for autism and in general an epigenetic mechanism for complex disease"
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