A new study published in the New England Journal of Medicine yesterday1 identifies three different genetic mutations that appear to be associated with early‐onset inflammatory bowel disease (IBD).
Researchers examined two families which had a total of nine cases of early‐onset IBD and identified “three distinct homozygous mutations in genes IL10RA and IL10RB, encoding the IL10R1 and IL10R2 proteins, respectively, which form a heterotetramer to make up the interleukin‐10 receptor.” They also tested a small sample of IBD patients from outside those two families to determine if similar genetic mutations could be involved in other cases of IBD. The researchers go on to theorize that in these particular patients a lack of interleukin‐10 signaling is “the principal malfunction and is a likely cause of inflammatory bowel disease in patients with IL10R2 deficiency.”
What I find most interesting (and perhaps indicative of the future course of IBD diagnosis and treatment) is that after identifying the genetic components at work in these families, the researchers used that information to select a specific course of treatment — they decided to perform a bone marrow transplantation (allogeneic hematopoietic stem‐cell transplantation) in one severely affected family member in an attempt to remove these particular genetic mutations. After more than a year, the treatment appears to have been successful in negating the genetic mutations and eliminating further instances of the patient’s IBD.
I suspect this foreshadows a day when doctors will perform a genetic test on every newly diagnosed IBD patient and use the results of that test to determine which course of treatment will be most affective for each patient’s “flavor” of Crohn’s disease or ulcerative colitis.
- Inflammatory Bowel Disease and Mutations Affecting the Interleukin‐10 Receptor, Erik‐Oliver Glocker, M.D., et. al., New England Journal of Medicine, 4 November 2009. [↩]