Researchers Identified the Genetic Cause of a Previously Unknown Human Autoinflammatory Disease

Researchers Identified the Genetic Cause of a Previously Unknown Human Autoinflammatory Disease

Scientists from Australia and the US have found and recognized the genetic reason behind a previously unknown human autoinflammatory disease.

The researchers decided that the autoinflammatory disease, which they termed CRIA (cleavage-resistant RIPK1-induced autoinflammatory) syndrome, is brought on by a mutation in an essential cell demise element referred to as RIPK1.

The research group was led by Professor John Silke from the Walter and Dr. Najoua Lalaoui, and Dr. Hirotsugu Oda, Dr. Steven Boyden, Dr. Dan Kastner from the National Human Genome Research Institute on the National Institutes of Health US. The study was published today in Nature.

Dr. Lalaoui stated the research group had recognized a new human autoinflammatory disease and the related mutation in an important cell death molecule that was driving the disease.

Autoinflammatory diseases are caused by irregular activation of the innate immune system, resulting in recurrent episodes of fever and inflammation that may harm very important organs. Within the paper, the researchers describe patients from three families with a history of episodic high fevers and painful swollen lymph nodes. The patients, who have been recognized with a new autoinflammatory disease (CRIA syndrome), had a bunch of different inflammatory signs which started in childhood and continued into their adult years.

Dr. Lalaoui stated Walter and Eliza Hall Institute researchers confirmed the link between the RIPK1 mutations and CRIA syndrome in laboratory models. Dr. Kastner noted that RIPK1 inhibitors—that are already accessible on a research basis might present a centered, ‘precision medication’ strategy to treating patients.

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