Could a Gene Mutation Be Worsening Iron Deficiency in Crohn’s Disease Patients?

New York, June 8 (NationPress) Researchers in the field of biomedical science have identified a genetic mutation linked to Crohn’s disease that exacerbates iron deficiency and anemia, which are among the most frequent complications faced by individuals suffering from inflammatory bowel disease (IBD). The investigation, spearheaded by scientists at the University of California, Riverside School of Medicine, was conducted using serum samples from IBD patients. The findings indicate that those with a loss-of-function mutation in the PTPN2 gene (protein tyrosine phosphatase non-receptor type 2) demonstrate considerable disruption in blood proteins that control iron levels.

This particular mutation is present in approximately 14-16 percent of the general population and around 19-20 percent of individuals with IBD. A loss-of-function mutation signifies a genetic alteration that diminishes or abolishes the typical function of a gene or its protein product.

Although IBD predominantly impacts the intestines, its ramifications extend beyond the gut. Iron deficiency anemia stands out as the most common consequence, leading to persistent fatigue and a diminished quality of life, especially during periods of disease exacerbation, as outlined in the study published in the International Journal of Molecular Sciences.

“This finding unveils a crucial mechanism that connects a patient’s genetics to their capacity to absorb and regulate iron, which is vital for sustaining healthy blood and energy levels,” remarked Declan McCole, a professor of biomedical sciences at UCR and the study’s lead author. “Our research provides insight into why some IBD patients remain iron-deficient despite receiving oral supplementation.”

The researchers observed that when the PTPN2 gene was deleted in mice, the subjects developed anemia and exhibited poor iron absorption.

The analysis revealed that this was attributed to diminished levels of a crucial iron-absorbing protein located in the intestinal epithelial cells, which are responsible for absorbing dietary nutrients.

“The only means by which the body can acquire iron is through intestinal absorption from food, making this discovery particularly important,” emphasized Hillmin Lei, a doctoral student in McCole’s lab and the study’s primary author.

Genetic variations, such as those found in PTPN2, could elucidate why certain IBD patients do not respond effectively to oral iron therapy, a standard treatment for anemia, Lei added.

This research marks a significant step toward comprehending how genetic risk factors for IBD can amplify patient symptoms by disrupting nutrient absorption.