US EditionMutation Spectrum of NOD2 Reveals Recessive Inheritance as a Main Driver of Early Onset Crohn’s Disease
- Scientists from a medical school in Southern California discovered that a mutation in the PTPN2 gene contributes to worsening iron deficiency and anemia in individuals with Crohn’s disease.
- They found that this mutation disrupts blood proteins regulating iron levels, explaining why some inflammatory bowel disease patients remain iron-deficient despite treatment.
- The study included deleting PTPN2 in mice, which caused anemia and poor iron absorption due to reduced intestinal iron-absorbing protein levels.
- Declan McCole explained that the findings reveal an important biological process through which a person’s genetic makeup influences how effectively they absorb and manage iron, a key factor for maintaining good health.
- The findings suggest prioritizing patients with PTPN2 mutations for intravenous iron therapy to address anemia since oral iron may be poorly absorbed in these cases.
13 Articles
13 Articles
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD represents ≥ 25% of all IBD diagnoses and often presents with intestinal stricturing, perianal disease, and failed response to conventional treatments. NOD2 was the first and is the most replicated locus assoc…
Genetic link found between iron deficiency and Crohn’s disease
A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how 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.
Genetic mutation linked to iron deficiency in Crohn's disease patients
A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how 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.
A study with the participation of CIBEREHD, focused on liver and digestive diseases, revealed for the first time in 2023, that the real incidence of Inflamatory Intestinal Disease (EIII) in Spain is 16 cases per 100,000 inhabitants-year.We use the term "inflammatory intestinal disease" to describe or group various disorders that involve inflammation of the digestive tract tissues that can be considered chronic, that is, for a long time.And, as e…
Calgary/Hong Kong – For a long time, ulcerative colitis and Crohn's disease were diagnosed only in Western countries. The incidence of the disease is now also increasing in Asia, Latin America, and even in Africa, while the increase is slowing in some Western countries. An international team of researchers distinguishes between...
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