A groundbreaking study led by researchers at the University of California, Riverside School of Medicine has uncovered a genetic link between Crohn’s disease and iron deficiency anemia. Published recently in the International Journal of Molecular Sciences, the research highlights how a mutation in the gene PTPN2 disrupts iron absorption, exacerbating anemia, a common and debilitating complication for patients with inflammatory bowel disease (IBD).
The study focused on serum samples from IBD patients and found that those carrying a loss-of-function mutation in the PTPN2 gene experienced significant disruptions in proteins regulating iron levels. This mutation, present in 14-16% of the general population and 19-20% of IBD patients, impairs the body’s ability to absorb iron from food.
To confirm these findings, researchers deleted the PTPN2 gene in mice, which subsequently developed anemia and struggled to absorb iron effectively. The team traced this issue to reduced levels of a critical iron-absorbing protein in intestinal epithelial cells—the cells responsible for nutrient uptake.
“This discovery explains why some IBD patients remain iron-deficient despite oral supplements,” said Declan McCole, the study’s lead author and a professor of biomedical sciences at UCR. “Their genetic makeup interferes with iron absorption at the cellular level.”
Hillmin Lei, the study’s first author and a doctoral student in McCole’s lab, emphasized the significance of the findings: “The body relies entirely on intestinal absorption for iron. Disruptions in this pathway, like those caused by PTPN2 mutations, could render oral iron therapy ineffective for certain patients.”
McCole added, “Our research opens doors for targeted therapies, such as intravenous iron supplementation, for patients with this genetic variant.”
The study not only clarifies a long-standing challenge in IBD treatment but also paves the way for personalized approaches to managing anemia in Crohn’s disease patients. By identifying genetic markers like PTPN2, clinicians can tailor treatments to address systemic complications beyond inflammation, improving patients’ quality of life.
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