NIH researchers ID a new rare, inflammatory disease

MD Anderson protein ZMYND8

National Institutes of Health scientists have discovered a rare, deadly inflammatory disease among young children, known as otulipenia. It’s caused by the malfunction of OTULIN, a gene on chromosome 5 that regulates the development of new blood vessels and the mobilization of infection-fighting cells and proteins.

Researchers identified four children from Pakistani and Turkish families with the disease, which is characterized by a problem processing the small protein ubiquitin and is accompanied by inflammation that leads to skin rashes and inflamed joints.

Once the children were identified, the NIH scientists used next-gen DNA sequencing to search for disease-causing genes, which is how they found the abnormal OTULIN gene. It is part of the innate immune system, which is present at birth with cells and proteins to fight infections.


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They effectively used anti-tumor necrosis factor drugs (TNF inhibitors), which are used to treat other chronic inflammatory diseases such as rheumatoid arthritis, to treat the children with otulipenia.

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

The research was published in the Aug. 22 issue of the Proceedings of the National Academy of Sciences (PNAS). The work was done across several NIH agencies including the National Human Genome Research Institute (NHGRI), the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases, the National Heart, Lung, and Blood Institute and the NIH Clinical Center, alongside scientists from Turkey and the U.K.

This research, alongside recent work identifying the haploinsufficiency of A20 (HA20), suggests a new category of human inflammatory diseases caused by impaired ubiquitination, according to the researchers.

“The malfunction in this protein has not been previously linked to clinical disorders of the human immune system,” said Dr. Ivona Aksentijevich, 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.”

- here is the release

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