{"id":4926,"date":"2025-07-04T09:59:01","date_gmt":"2025-07-04T09:59:01","guid":{"rendered":"https:\/\/scientificworld.org\/?p=4926"},"modified":"2025-07-04T10:08:45","modified_gmt":"2025-07-04T10:08:45","slug":"genetic-mutation-in-crohns-disease-linked-to-iron-deficiency","status":"publish","type":"post","link":"https:\/\/scientificworld.org\/?p=4926","title":{"rendered":"Genetic Mutation in Crohn\u2019s Disease Linked to Iron Deficiency"},"content":{"rendered":"\n<p>A groundbreaking study led by researchers at the University of California, Riverside School of Medicine has uncovered a genetic link between Crohn\u2019s disease and iron deficiency anemia. Published recently in the <a href=\"http:\/\/dx.doi.org\/10.3390\/ijms26073356\">International Journal of Molecular Sciences,<\/a>&nbsp;the research highlights how a mutation in the gene PTPN2 disrupts iron absorption, exacerbating anemia, a common and debilitating complication for patients with inflammatory bowel disease (IBD).<\/p>\n\n\n\n<p>The study focused on serum samples from IBD patients and found that those carrying a loss-of-function mutation in the PTPN2 gene experienced significant disruptions in proteins regulating iron levels. This mutation, present in 14-16% of the general population and 19-20% of IBD patients, impairs the body\u2019s ability to absorb iron from food.<\/p>\n\n\n\n<p>To confirm these findings, researchers deleted the PTPN2 gene in mice, which subsequently developed anemia and struggled to absorb iron effectively. The team traced this issue to reduced levels of a critical iron-absorbing protein in intestinal epithelial cells\u2014the cells responsible for nutrient uptake.<\/p>\n\n\n\n<p>\u201cThis discovery explains why some IBD patients remain iron-deficient despite oral supplements,\u201d said Declan McCole, the study\u2019s lead author and a professor of biomedical sciences at UCR. \u201cTheir genetic makeup interferes with iron absorption at the cellular level.\u201d<\/p>\n\n\n\n<p>Hillmin Lei, the study\u2019s first author and a doctoral student in McCole\u2019s lab, emphasized the significance of the findings: \u201cThe body relies entirely on intestinal absorption for iron. Disruptions in this pathway, like those caused by PTPN2 mutations, could render oral iron therapy ineffective for certain patients.\u201d<\/p>\n\n\n\n<p>McCole added, \u201cOur research opens doors for targeted therapies, such as intravenous iron supplementation, for patients with this genetic variant.\u201d<\/p>\n\n\n\n<p>The study not only clarifies a long-standing challenge in IBD treatment but also paves the way for personalized approaches to managing anemia in Crohn\u2019s disease patients. By identifying genetic markers like PTPN2, clinicians can tailor treatments to address systemic complications beyond inflammation, improving patients\u2019 quality of life.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A groundbreaking study led by researchers at the University of California, Riverside School of Medicine has uncovered a genetic link between Crohn\u2019s disease and iron deficiency anemia. Published recently in the International Journal of Molecular Sciences,&nbsp;the research highlights how a mutation in the gene PTPN2 disrupts iron absorption, exacerbating anemia, a common and debilitating complication [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1565],"tags":[1566,441],"class_list":["post-4926","post","type-post","status-publish","format-standard","hentry","category-health-medicine","tag-health-medicine","tag-iron-deficiency"],"_links":{"self":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4926","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=4926"}],"version-history":[{"count":1,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4926\/revisions"}],"predecessor-version":[{"id":4927,"href":"https:\/\/scientificworld.org\/index.php?rest_route=\/wp\/v2\/posts\/4926\/revisions\/4927"}],"wp:attachment":[{"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=4926"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=4926"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/scientificworld.org\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=4926"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}