California: A team of biomedical researchers at the University of California, Riverside School of Medicine has uncovered a crucial genetic mutation that could explain why many patients with Crohn’s disease and other forms of inflammatory bowel disease (IBD) suffer from iron deficiency and anemia—two of the most common and debilitating side effects of these chronic conditions.
The breakthrough centers on a loss-of-function mutation in the PTPN2 gene (Protein Tyrosine Phosphatase Non-Receptor Type 2), which plays a key role in regulating blood proteins responsible for iron absorption and transport.
A Hidden Link Between Gut Health and Iron Deficiency
Although IBD primarily affects the digestive tract, its impact often extends to other bodily systems. According to the study—published in the International Journal of Molecular Sciences—a significant proportion of individuals with IBD experience iron deficiency anemia, which can lead to chronic fatigue, reduced energy levels, and lower quality of life, particularly during flare-ups.
The new findings suggest that patients carrying the PTPN2 mutation may have a genetically compromised ability to regulate iron in the bloodstream.
“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 Dr. Declan McCole, lead researcher and professor of biomedical sciences at UCR.
How Common Is This Mutation?
The loss-of-function mutation in the PTPN2 gene occurs in approximately:
- 14–16% of the general population
- 19–20% of people with IBD
A loss-of-function mutation refers to a genetic alteration that reduces or completely stops the normal activity of a gene or the protein it produces. In the case of PTPN2, this disruption may hinder the body’s iron regulation system, exacerbating iron-deficiency anemia in affected individuals.
Why This Matters
Understanding the genetic link between Crohn’s disease and iron deficiency could have major implications for future treatment strategies. Current therapies focus primarily on managing gut inflammation and symptoms. With this discovery, researchers may be able to tailor iron supplementation or target specific genetic pathways in patients with the PTPN2 mutation, potentially improving both energy levels and disease outcomes.
The study also adds to growing evidence that IBD is a systemic disease, not just a gastrointestinal disorder. It reinforces the need for holistic treatment approaches that consider the broader effects of chronic inflammation on the body.
What’s Next?
The researchers plan to further explore how the PTPN2 gene interacts with iron-regulating proteins and whether targeted therapies can reverse or mitigate the mutation’s effects. If successful, such treatments could improve quality of life for millions living with IBD, particularly those who struggle with persistent fatigue and iron-related complications.
This finding marks a step forward in personalized medicine, offering a clearer picture of how genetics influence nutrient absorption and chronic disease management.
