Epigenetic Modification of PAX8 in Persons with Hypersomnia and Concurrent Medication Use

2021 Diversity Supplement Grant

Andy Madrid, PhD
University of Wisconsin-Madison

Key Project Outcomes

This project examined epigenetic modification of a gene (PAX8/PAX8-AS1) that has previously been associated with sleep duration in unmedicated persons with hypersomnolence. Specifically, the study was designed to see if prior results could be replicated in a unique sample of patients who were taking medications at the time of assessment. This is important because many patients being evaluated for central nervous system disorders of hypersomnolence are unable to safely stop medications that may affect sleep testing in the laboratory. We did not find a significant association between methylation of the gene in question and excessive sleep duration as we had hypothesized. However, these null results are very informative and will lead to further avenues of research that clarify the causes that underly these findings. We plan to further investigate epigenetic changes in persons with hypersomnolence, using other datasets and more advanced emerging analysis techniques. Broadly, we hope to identify potential mechanisms underlying hypersomnolence, which may lead to novel therapies for persons who struggle with chronic daytime sleepiness. I am very appreciative of the Foundation’s support, as it has helped me better appreciate the exciting work conducted in the field of sleep medicine research and make connections within the broader scientific community.



PAX8/PAX8-AS1 DNA methylation levels are not associated with sleep duration in medicated patients with unexplained hypersomnolence