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Key Points

A groundbreaking study from the University of California, Riverside has uncovered a significant genetic mutation that explains why some Crohn's disease patients struggle with iron deficiency. The research focuses on the PTPN2 gene, which affects iron absorption and protein regulation in patients with inflammatory bowel disease. By examining serum samples and conducting mouse studies, researchers demonstrated how this mutation disrupts iron uptake in intestinal cells. The findings offer crucial insights into why some patients remain iron-deficient despite standard supplementation, potentially opening new paths for targeted treatment.

Key Points: Crohn's Disease Gene Mutation Causes Iron Deficiency Revealed

  • Gene mutation impacts iron absorption in Crohn's patients
  • PTPN2 mutation affects 19-20% of IBD population
  • Research explains persistent iron deficiency despite supplements
  • Mice studies confirm genetic link to anaemia
2 min read

Study finds gene mutation causing iron deficiency in Crohn's disease patients

UC Riverside researchers discover PTPN2 gene mutation's role in iron absorption challenges for Crohn's disease patients

"This discovery sheds light on a critical mechanism that links a patient's genetics to their ability to absorb and regulate iron - Declan McCole, UCR Professor"

New Delhi, June 9

Researchers have found a genetic mutation that can worsen iron deficiency and anaemia in patients with Crohn's disease.

Crohn's disease is a chronic inflammatory bowel disease (IBD) that can affect the small intestine and the large intestine.

While it is characterised by chronic inflammation, leading to symptoms like abdominal pain, diarrhoea, fatigue, and weight loss, it can also cause anaemia.

Iron-deficient anaemia is most common among Crohn's patients and leads to chronic fatigue, reducing the quality of life, particularly during disease flare-ups.

Biomedical scientists at the University of California, Riverside School of Medicine found that mutation in the gene PTPN2 (protein tyrosine phosphatase non-receptor type 2) -- found in 14-16 per cent of the general population and 19-20 per cent of the IBD population -- is responsible for this.

The study, performed on serum samples from IBD patients, reports that patients carrying a loss-of-function mutation in the PTPN2 gene exhibit significant disruption in blood proteins that regulate iron levels.

A loss-of-function mutation is a genetic change that reduces or eliminates the normal function of a gene or its product, a protein.

"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," McCole said.

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

The findings, published in the International Journal of Molecular Sciences, showed it 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.

- IANS

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Reader Comments

R
Rajesh K.
This is a significant breakthrough! My cousin suffers from Crohn's and has been struggling with iron supplements not working. Finally some answers. Hope Indian medical researchers can collaborate on this to develop better treatments for our population. 🙏
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Priya M.
Interesting research but I wonder if this mutation is more prevalent in certain ethnic groups? India has such genetic diversity, we need local studies too. The 14-16% figure might be different here. Still, good to see progress in understanding IBD complications.
A
Amit S.
As someone with Crohn's, this explains so much! The fatigue is unbearable sometimes. But the article doesn't mention - does this mean IV iron would work better than oral supplements for people with this mutation? Doctors in India should read this study carefully.
S
Sunita R.
While the research is promising, I'm concerned about accessibility. Genetic testing is expensive in India. Will this discovery actually help common patients or just remain an academic finding? We need affordable diagnostic solutions for our healthcare system.
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Vikram J.
Good to see medical research progressing, but I wish they'd also study traditional Indian treatments for IBD. My grandmother used Ayurvedic remedies that helped her digestion issues. Modern science should investigate these ancient practices too - could be valuable insights there.

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