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A team of biomedical scientists at the University of California, Riverside School of Medicine has uncovered a genetic mutation that significantly worsens iron deficiency and anemia among patients with Crohn’s disease, a chronic inflammatory bowel disorder. This discovery, published in the International Journal of Molecular Sciences, sheds new light on why some patients remain iron-deficient despite standard treatments.
Crohn’s disease, which affects both the small and large intestines, is marked by chronic inflammation leading to symptoms such as abdominal pain, diarrhea, fatigue, and weight loss. Iron deficiency anemia is the most common complication, often resulting in persistent fatigue and a reduced quality of life, especially during disease flare-ups.
The researchers focused on the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2), which is found in 14–16% of the general population and 19–20% of individuals with inflammatory bowel disease (IBD). They discovered that a loss-of-function mutation in PTPN2—meaning the gene’s normal activity is reduced or eliminated—disrupts the body’s ability to regulate iron levels in the blood. This mutation leads to a significant reduction in key iron-absorbing proteins within the intestinal lining, impairing the absorption of dietary iron.
In experiments with mice lacking the PTPN2 gene, the animals developed anemia and were unable to absorb iron effectively, mirroring the symptoms observed in human patients. The findings suggest that this genetic variant explains why some Crohn’s disease patients do not respond to oral iron supplements, a standard treatment for anemia.
“This discovery sheds light on a critical mechanism that links a patient’s genetics to their ability to absorb and regulate iron, which is essential for maintaining healthy blood and energy levels,” said Declan McCole, a professor of biomedical sciences at UCR and the study’s lead author. “Our findings offer an explanation for why some IBD patients remain iron-deficient despite oral supplementation.”
The research highlights the potential for more personalized treatment approaches. Patients with PTPN2 mutations may benefit from intravenous iron therapy rather than oral supplements, which could be poorly absorbed due to the genetic disruption. The study also opens new avenues for targeted therapies that address both the inflammation and systemic complications of Crohn’s disease.
Disclaimer:
This news article is based on recent scientific findings and is intended for informational purposes only. It does not constitute medical advice. Individuals with Crohn’s disease or concerns about iron deficiency should consult a healthcare professional for diagnosis and treatment.
