Scientists have discovered a rare and sometimes fatal inflammatory disease. The condition is called otulipenia and primarily affects young children. The researchers published their findings in the Proceedings of the National Academy of Sciences.
The discovery is attributable to researchers from several different branches of the National Institutes of Health who worked in collaboration with colleagues in Turkey and the United Kingdom.
Here are three things to know about otulipenia and the research behind its discovery.
1. The disease: Otulipenia is an inflammatory disease. Like other similar conditions, this disease occurs when the immune system attacks the host's own tissues. Inflammation is the body's natural defense system against invading bacteria or viruses. When one suffers from an inflammatory disease, this defense mechanism is comprised. Conditions like these that affect the whole body are caused by mutations in genes like OTULIN, which are an essential part of the body's immune system.
2. The discovery: The identification of the disease occurred after the international network of scientists identified comparable abnormalities in the OTULIN gene of four sick children from Pakistani and Turkish families. The children were suffering from unexplained skin rashes and inflamed joints.
3. The treatment: Researchers were able to better understand the mechanisms of the disease by studying the patient's immunity pathways. Among the patients, researchers identified the same problem in the body's ability to break down the small protein ubiquitin, which is crucial to the regulation of many other proteins in the body. Researchers then developed a treatment to turn off a chemical messenger involved in systemic inflammation.
"The results have been amazing and life changing for these children and their families," said Daniel Kastner, MD, PhD, study co-author and scientific director of the National Human Genome Research Institute of the NIH. "We have achieved the important goal of helping these young patients and made progress in understanding the biological pathways and proteins that are important for the regulation of the immune system's responses."
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