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Researchers discover potential genetic trigger of autoimmune disease


Senior Member
... For their study, HSS researchers hypothesized that the abnormal expression of genetic elements known as LINE-1 ( L1) retroelements might trigger an innate immune response similar to that produced by outside viruses and contribute to an overproduction of interferons. Interferons are molecules our body produces in the presence of viruses and other pathogens to mobilize the immune system.

In healthy individuals, interferon is part of the complex immune response to combat danger. However, if levels of interferon are too high, instead of playing a protective role it can contribute to the development of autoimmune disease.

"In a number of these diseases, such as lupus and Sjogren's syndrome, a class of interferon known as type 1 interferon is made in abundance and plays a key role, contributing to the immune dysfunction," said Mary K. Crow, MD, physician-in-chief at Hospital for Special Surgery and senior study author.
Researchers studied kidney biopsy samples from 24 patients with lupus nephritis and salivary gland tissue from 31 patients with Sjogren's syndrome and compared them to healthy tissue.

"Our findings support the hypothesis that L1 retroelements, perhaps along with other virus-derived genomic elements, may contribute to the development of autoimmune disorders characterized by high levels of type 1 interferon," she said. "Although it may not be the only cause, it's intriguing to think that virus-derived elements in our own genome are either quiet and don't cause any trouble, or they get stirred up and contribute to disease."



Senior Member
East Coast USA
Thanks for posting this interesting research @natasa.

An excerpt from my input to the NIH RFI under gaps in ME/CFS research:
  • Interferon — More than two decades ago Wakefield and Lloyd noted the symptoms of ME/CFS bear a startling resemblance to those of interferon poisoning. In 2008 interferon genes topped the list in the Kerr, et al. gene expression study [PMID 18462164]. In 2013 new insights into the immunoregulatory properties of the interferon pathway during acute or chronic infections were published [Science, 12 April 2013 “An Interferon Paradox”]. Interferon signatures have been used to predict rituximab response in autoimmune disease [PMID 22540992.] And on June 3, 2016 at the IiME Conference in London Dr. Jo Cambridge, UCL, mentioned interferon may be involved in positive patient response to rituximab. It’s time to better understand the role of interferon and interferon signatures in ME/CFS, currently a gap in the research continuum.