(RxWiki News) Researchers have discovered a new inflammatory disease.
It's called otulipenia and was recently discovered by researchers at the National Institutes of Health (NIH).
According to these researchers, otulipenia is a rare disease that primarily affects young children. With this condition, the immune system attacks the body's tissues. In some cases, otulipenia can lead to death.
The NIH researchers found that otulipenia is the result of OTULIN, a single gene on chromosome 5, not working properly. When OTULIN works properly, the body can effectively develop blood vessels and fight infection.
Once the researchers found the connection between otulipenia and the malfunction of OTULIN, they studied this condition further and found a problem in the way ubiquitin, a small protein, is processed in the body. Inflammation occurs when the body cannot remove ubiquitin proteins properly.
With this discovery came the finding that children with this inflammatory disease may respond to anti-tumor necrosis factor drugs (TNF inhibitors). In fact, those children who were treated with TNF inhibitors had their inflammation diminish. This class of medication treats other chronic inflammatory diseases, such as rheumatoid arthritis.
“The results have been amazing and life-changing for these children and their families,” said Dr. Daniel Kastner, research co-author and National Human Genome Research Institute (NHGRI) scientific director and Inflammatory Disease Section head, in a press release.
Dr. Ivona Aksentijevich, co-author and staff scientist at the NHGRI Medical Genetics Branch, said in the press release that "This discovery suggests a direction that can be explored for development of new therapies for patients with a wide range of inflammatory diseases."
These findings were recently published in the early edition of the Proceedings of the National Academy of Sciences.