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Key Points

Scientists at UC Riverside have uncovered a groundbreaking connection between a specific gene mutation and iron deficiency in Crohn's disease patients. The study reveals that the PTPN2 gene mutation affects iron absorption, explaining why some patients struggle with anemia despite treatments. Researchers found this mutation in 14-16% of the general population and demonstrated its impact through mouse model experiments. This discovery offers new insights into genetic factors influencing nutrient absorption and could potentially revolutionize treatment approaches for inflammatory bowel disease.

Key Points: UC Riverside Scientists Reveal Gene Mutation Causing Crohn's Anemia

  • PTPN2 gene mutation disrupts iron absorption in inflammatory bowel disease
  • 14-16% of population carries this genetic variation
  • Mice studies confirm direct link between gene deletion and anemia
  • Discovery could improve targeted treatment strategies
2 min read

Scientists find gene mutation that links iron deficiency with Crohn's disease

Breakthrough study links PTPN2 gene mutation to iron deficiency in Crohn's disease patients, explaining treatment resistance

"Our findings offer an explanation for why some IBD patients remain iron-deficient despite oral supplementation. - Declan McCole, UCR Professor"

New York, June 8

Biomedical scientists have discovered that a genetic mutation associated with Crohn’s disease can worsen iron deficiency and anemia — one of the most common complications experienced by patients with inflammatory bowel disease, or IBD.

The study led by scientists at the University of California, Riverside School of Medicine in the US — performed on serum samples from IBD patients — reported that patients carrying a loss-of-function mutation in the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2) exhibit significant disruption in blood proteins that regulate iron levels.

This mutation is found in 14-16 per cent of the general population and 19-20 per cent of the IBD population. A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.

While IBD primarily affects the intestines, it can have effects beyond the gut. Iron deficient anemia is the most prevalent of these effects, contributing to chronic fatigue and reduced quality of life, particularly during disease flare-ups, said the study published in the International Journal of Molecular Sciences.

“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 who led the study. “Our findings offer an explanation for why some IBD patients remain iron-deficient despite oral supplementation.”

When the researchers deleted the PTPN2 gene in mice, the animals developed anemia and were unable to absorb iron effectively.

The team found this was due to reduced levels of a key iron-absorbing protein located in the intestinal epithelial cells — the cells responsible for taking up dietary nutrients.

“The only way the body can obtain iron is through intestinal absorption from food, making this discovery particularly significant,” said first author Hillmin Lei, a doctoral student in McCole’s lab.

Disruption of this pathway by genetic variants like those in PTPN2 could help explain why some IBD patients fail to respond to oral iron therapy, a commonly prescribed treatment for anemia, Lei added.

The study is a vital step toward understanding how genetic risk factors for IBD can compound patient symptoms by interfering with nutrient absorption.

—IANS

- IANS

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Reader Comments

P
Priya K.
This is such an important finding! My cousin suffers from Crohn's and has struggled with anemia despite iron supplements. Finally some scientific explanation for why oral iron doesn't work for everyone. Hope this leads to better treatments soon 🙏
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Rahul S.
Interesting research but I wonder if this mutation is more common in certain ethnic groups? In India we have high prevalence of anemia generally - would be useful to study if this gene variant contributes to our national health burden.
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Anjali M.
As someone with IBD, this gives me hope! But I wish the article mentioned what percentage of Indian patients might have this mutation. Our healthcare system needs more genetic research focused on Indian populations. The 'one size fits all' approach to treatment isn't working.
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Vikram J.
Good research but I'm concerned about accessibility. Genetic testing is expensive in India - will ordinary patients benefit from these findings? We need affordable diagnostic tools and targeted therapies that don't break the bank 💸
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Neha P.
This explains so much! My doctor kept increasing my iron dosage but I still felt exhausted. Maybe I have this gene variant. Sharing this article with my gastroenterologist - maybe we can try different treatment approaches. Science is amazing when it solves real patient problems!

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