New York, June 8 (IANS) 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
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