A Genetic Lead in ADHD

Alan R. Jacobs, MD


February 27, 2017

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This is the Medscape Neurology Minute. I'm Dr Alan Jacobs.

Researchers from the National Human Genome Research Institute in Bethesda, Maryland, have further characterized a genetic risk for attention-deficit/hyperactivity disorder (ADHD).[1] Their study focused on gene variants within a previously characterized ADHD linkage region called ADGRL3.

In 838 individuals, of which 372 were afflicted with ADHD, in silico, in vitro, and in vivo methods were used to identify and characterize evolutionarily conserved elements within ADGRL3 that showed transcriptional enhancer activity and transcription factor-binding disruption.

One transcription enhancer called ECR47 showed the highest association with ADHD. ECR47 normally boosts gene expression in the brain. The researchers found a variation in ECR47 associated with ADHD that disrupts its ability to function normally and interferes with gene transcription, specifically in the thalamus.

The authors find these results to represent functional evidence of a common gene variant with potential implications for the pathology of ADHD.

This has been the Medscape Neurology Minute. I'm Dr Alan Jacobs.


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