MedicalResearch.com Interview with: Ashley Jowell, MD, Internal Medicine Resident Physician Duke University   Cynthia Moylan, MD Associate Professor of Medicine, Division of Gastroenterology Duke University Health System       MedicalResearch.com: What is the background for this study? Response: Metabolic dysfunction can lead to several health problems including metabolic dysfunction associated steatotic liver disease (MASLD), is driven by different factors, including: a person’s behavioral or lifestyle factors, environmental factors, and genetics. Limited research exists regarding genetic , epigenetic, or other factors that might impact development of metabolic dysfunction and MASLD. Our group has previously shown that alterations in DNA methylation (a type of epigenetic change), identifiable both in liver tissue and in blood, associate with MASLD and its progression to more severe liver disease.  Whether DNA methylation that impacts imprinted gene expression also associates with metabolic dysfunction and MASLD risk remains largely unknown. In this project, we explored imprinted genes: imprinting is a normal process that regulates genes by silencing one parental copy (either the maternal or the paternal) so that only one copy is expressed. Imprinting is an important biological process for development and has a disproportionate impact on disease  - in fact, imprinted genes are hypothesized to affect 1-6% of the human genome. We sought to explore how altered DNA methylation of imprint control regions (ICRs) that help ‘control’ these imprinted genes might impact development of metabolic dysfunction in children (and hence potentially even in adults).

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