Autism Speaks, a leading autism science and advocacy organization, selected UNC School of Medicine research on the underlying causes of autism as one of the top 10 advances in autism research of 2013.
In August, the labs of Mark Zylka, PhD, and Ben Philpot, PhD, published findings in the journal Nature, showing how dozens of autism-related genes are impaired when an enzyme called topoisomerase is inhibited. The enzyme is fundamental to brain development. Therefore, disrupting the enzyme’s natural expression may be a cause of autism.
Zylka and Philpot’s team found that the chemotherapy drug topotecan inhibits topoisomerase. Now they are investigating other compounds that they suspect might inhibit topoisomerase, as well as compounds that might have the same disruptive effect on genes that have been implicated in autism.
The enzyme is fundamental to brain development. Therefore, disrupting the enzyme’s natural expression may be a cause of autism.
The work is part of a much larger autism research effort at UNC, which is home to two UNC Autism Centers of Excellence funded through the National Institutes of Health. Only UCLA has more than one such center. There are 12 across the country.
Read the UNC School of Medicine press release on the Nature findings, including video interviews with Zylka and Philpot.
Read the UNC School of Medicine feature Five Questions with Mark Zylka, who won an NIH Pioneer Award for his autism work.
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