NIH Researchers Discover New Painful Inflammatory Disease AND Its Treatment

NIH Researchers Discover New Painful Inflammatory Disease AND Its Treatment

By Staff

A rare and sometimes lethal inflammatory disease that mostly affects young children, called otulipenia, has been discovered by researchers from the National Institutes of Health (NIH), according to findings published in the early edition of the Proceedings of the National Academy of Sciences (Aug. 22, 2016).

What is even more interesting is the fact that the researchers also identified anti-inflammatory treatments that manage some of the symptoms of otulipenia, like joint pain and overall failure to grow or thrive.

Otulipenia is caused by the malfunction of OTULIN, which is a gene located on chromosome 5. The gene’s purpose is to regulate the development of blood vessels and the mobilization of cells and proteins to fight infection.

Children with otulipenia experience inflammation as a result of an autoimmune response that attacks the child’s own tissues, causing blood vessels to leak and tissues to swell, resulting in pain and other complications like the difficulty in fighting infection.

“The results have been amazing and life changing for these children and their families,” said Daniel Kastner, M.D., Ph.D., co-author, NHGRI scientific director and head of NHGRI’s Inflammatory Disease Section.  “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.”

Once they found that the OTULIN gene was abnormal in the sick children, they studied the immune pathway in order to understand the disease and to figure out what kind of treatment the children needed.  They discovered a problem in a small protein called ubiquitin, which is critical to the regulation of many other proteins in the body, including immune molecules.

The researchers found that children with otulipenia might respond to drugs that turned off tumor necrosis factor (TNF), a chemical messenger involved in systemic inflammation.  Children taking anti-tumor necrosis factor drugs (TNF inhibitors, like the drugs used to treat other inflammatory disease, such as, rheumatoid arthritis, Crohn’s disease and others) experienced a reduction in overall inflammation.

“The malfunction in this protein has not been previously linked to clinical disorders of the human immune system,” said Ivona Aksentijevich, M.D., staff scientist in NHGRI’s Medical Genetics Branch and study co-author. “This discovery suggests a direction that can be explored for development of new therapies for patients with a wide range of inflammatory diseases.”

This study together with NIH’s 2016 identification of haploinsufficiency of A20 (HA20), suggests a new category of human inflammatory diseases caused by impaired ubiquitination, according to the researchers.

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Authored by: Staff

There are 4 comments for this article
  1. Christine Hawkins at 3:39 am

    I myself have had 4 sets of three epidural injections and to tell you the truth they made me crazy cuz I just your words make me absolutely crazy and did nothing to relieve my pain an Aleve and Mobic don’t do anything to relieve the pain I can’t work I can’t stand up for longer than 10 minutes and the other days I’m fine I had a botched up surgery Scar Tissue on my sciatica and whenever I do any kind of moving around or trying to do something physical and have a normal life then that’s when all the problems start and now I’ve got two other guys that are going bad and I’m and I’m not getting anymore those injections because they make it like I said they make me crazy my husband leaves every time I am I’m like a piranha and I had one of the best for me I just started doing injections I believe with every Orlando in April but its like $7,000 and I don’t have that kind of money so you tell me that a chiropractor is going to do something that a regular doctor I’ve been to a chiropractor too and I didn’t do a whole lot for me and I’m a physical person I just don’t sit around and eat bon-bons all day so any new news on their own pain relief I would love to hear it because I’m getting so tired of being beat up because I take opiates I even got off of them for 2 years and the pain was so terrible of me if you want to just go crazy so I had to get back on them

  2. Jean Price at 4:36 pm

    How odd they are just now finding this after RA has been an inflammatory condition around for eons!! Guess it’s expected adults will hurt, and kids shouldn’t! At least now they may come up with better therapies, even gene therapies.

  3. Angel at 2:56 pm

    It’s wonderful it’s been identified. If history is any indicator this means many children have suffered for a long time while doctors were unable to name and treat the cause of their suffering. This is great news for many families!

  4. Krissy at 7:31 am

    It makes me wonder if a new virus or bacteria is lurking about. How sad that a new disease is found in little children! Are there any data on environmental or geographical factors yet?