Arabic version: اكتشاف طفرة جينية جديدة مرتبطة بالتهاب القولون التقرحي في عائلة من بريسبان

Researchers have identified a genetic mutation associated with ulcerative colitis through a study of a Brisbane family. The research, which involved three generations of the family, points to a mutation in the OTUD3 gene linked to this debilitating inflammatory bowel disease. Five family members — a grandmother, two of her children, and two grandchildren — have been diagnosed with ulcerative colitis, suffering severe symptoms that required surgical interventions at a young age. According to ABC News, the findings could lead to improved treatment options for those affected.

The research team utilized advanced genomic sequencing to compare the DNA of affected family members with those who were not impacted by the disease. This approach revealed a significant presence of the OTUD3 mutation among other ulcerative colitis patients, suggesting a broader implication for the gene in the condition’s pathogenesis. Lead researcher Dr. Rabina Giri emphasized the importance of this discovery, stating that the OTUD3 gene plays a crucial role in maintaining gut integrity and its disruption leads to inflammation.

Dr. Giri collaborated with researchers from various institutions, including the University of Queensland, Melbourne’s Monash University, and Harvard Medical School, over a seven-year period to investigate the OTUD3 gene. The study’s implications extend beyond the Brisbane family, as it highlights the potential for developing new drugs targeting the gut lining, rather than solely focusing on immune system responses. Dr. Giri noted that preliminary data suggests existing medications may enhance protein expression related to the OTUD3 gene.

The research also sparked interest in the environmental factors contributing to ulcerative colitis, particularly in individuals with a genetic predisposition. The team is exploring whether dietary influences, such as a high-sugar diet, could trigger the disease earlier in susceptible populations. With more than 100,000 Australians living with inflammatory bowel disease, the study’s findings are seen as significant in uncovering hidden causes and developing targeted therapies.

The research was published in the journal Cellular and Molecular Gastroenterology and Hepatology, and experts have described the findings as a vital step toward improving diagnostic and therapeutic strategies for ulcerative colitis patients.