NIH Researchers Discover Otulipenia 

By  Staff Writer

nih researchers discover otulipenia
NIH Researchers Discover Otulipenia

NIH Researchers Discover Otulipenia

NIH Researchers Discover Otulipenia, a New Inflammatory Disease

This is an interesting article about a lethal disease caused by a genetic abnormality. A single gene on Chromosome 5 was identified as the cause of the problem. Finding the cause of diseases like Otulipenia is huge with us on the cusp of being able to modify Chromosomes with several new techniques. In upcoming years we will be able to go directly to the site of disease, like this one and change the genetic code and fix this illness. This breakthrough was through collaboration between people from different countries. Being able to work together on genetic projects like this speeds up the discoveries and saves lives every day.

Bethesda, Md., Mon., August 22, 2016 – National Institutes of Health researchers have discovered a rare and sometimes lethal inflammatory disease – otulipenia – that primarily affects young children. It is caused by the malfunction of OTULIN, a single gene on chromosome 5. They also identified anti-inflammatory treatments to ease some of the patients’ symptoms: fever, skin rashes, diarrhea, joint pain and an overall failure to grow or thrive. Read more in the Aug. 22, early edition of the Proceedings of the National Academy of Sciences.

Contributing to the work were researchers from 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, all part of NIH, along with their colleagues in Turkey and the United Kingdom.

“The results have been amazing and life changing for these children and their families,” said Daniel Kastner, M.D., Ph.D., co-author and 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.” Cells use biological pathways to send and receive chemical cues in reaction to injury, infection or stress.

Otulipenia is one of the several inflammatory diseases that occur when the immune system attacks the host’s own tissues. Inflammation is the body’s natural response to invading bacteria or viruses. The body releases chemicals that cause blood vessels to leak and tissues to swell in order to isolate a foreign substance from further contact with the body’s tissues. Inflammatory diseases affecting the whole body are caused by mutations in genes like OTULIN that are part of a person’s innate immunity (the cells and proteins present at birth that fights infections).


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