25 Apr DDW25: Duke Study Finds Imprinted Genes Measured at Birth Associated with Metabolic Dysfunction in Children
MedicalResearch.com Interview with:
Dr. Jowell
Ashley Jowell, MD,
Internal Medicine Resident Physician
Duke University
Dr. Moyland
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).
MedicalResearch.com: What are the main findings?
Response: We found that altered methylation at established imprint control regions measured in children at birth, as measured on a novel imprintome array, associated with several features of metabolic dysfunction later in those same children who were now about 8 years old.
Our main finding is that certain imprint control regions seem to have a disproportionate impact on future disease and markers of metabolic dysfunction in children. These findings could allow for an improved understanding of the pathogenesis & risk factors impacting metabolic disease. This knowledge could also serve as targets for future intervention.
MedicalResearch.com: What should readers take away from your report?
Response: Imprinted genes play an important role in the development of metabolic dysfunction including MASLD. Our findings suggest that some of these imprint control regions could be used as early biomarkers of risk and that this imprintome array may be a novel tool to identify and validate these early risk markers in humans. Future research is needed to expand and validate our findings and to clarify the relationship between ICRs and metabolic dysfunction.
MedicalResearch.com: What recommendations do you have for future research as a results of this study?
Response: We encourage scientists and clinicians to continue exploring the influence of epigenetic mechanisms on metabolic dysfunction risk. Further research is needed to understand the early life exposures that may alter ICRs and gene expression, whether some of the putative ICRs identified are true imprinted genes and if these can serve as early risk biomarkers. There continues to be many exciting opportunities for understanding disease pathogenesis and make real world impacts in the future.
Any disclosures?
Moylan disclosures – research grants to institution – Madrigal, GSK, Exact Sciences, Akero. Consultant – Novo Nordisk
Citation:
Dr. Jowell will present data from the study, “Identification of imprint control regions associated
with clinically significant metabolic dysfunction in children,” abstract 324, at 8:15 a.m. PDT,
Sunday, May 4, 2025. Digestive Disease Week
https://ddw.org/
More information:
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Last Updated on April 25, 2025 by Marie Benz MD FAAD
