New Autism Link to DNA Enzyme

Inhibiting specific enzymes involved with the genetic machinery aiding in brain development could cause Autism. Researchers at the Neuroscience Center, University of North Carolina have shown the importance of topoisomerase dysfunction in brain, and specifically synapse, development. Topoisomerases are in all human cells and help to untangle tightly wound or overwound DNA, which can interfere with the functioning of key cellular processes. Dysfunctional topoisomerases could have a profound impact on neurodevelopment if certain genes caught up in tangled DNA are not transcribed. This study highlights a connection between different classes of Autism-linked genes. Synapse genes, which help create brain cell connections, account for about 20% of Autism-linked genes, while genes involved in transcription make up another 20%. These two groups of genes become related when problems in gene transcription of usually long synapse genes potentially harm one’s ability to build synapses. These findings could help explain mechanisms behind a high percentage of Autism cases, and could have significant implications for Autism Spectrum Disorder detection and prevention.