A ‘genetic accelerator’ is accountable for the most grave cases of Lupus (systemic lupus erythemathosus), an autoimmune disease.

Professor Gianfranco Ferraccioli, Head of the Rheumatology Unit of Rheumatology and Internal Medicine of the Catholic University led the research in collaboration with Professor Domenico Frezza at Tor Vergata University of Rome and Professor Raffaella Scorza at University of Milan and they published their results in the Annals of the Rheumatic Diseases.
The discovery could lead to more targeted and effective therapies against this complex disease, in particular against the most severe cases, Professor Ferraccioli explained.
Systemic lupus erythematosus is an autoimmune disease, that is a condition in which the patient's immune system goes haywire and begins to attack the body rather than defend it. Lupus affects about 60,000 people in Italy, with a major prevalence among females. Lupus affects so several different organs and tissues and causes a variety of symptoms, including joint pain, fever, skin rashes, hair loss, Raynaud's disease, anemia, nephritis.
The therapies currently used are based on cortisone, anti-malarial drugs and immunosuppressants (azathioprine, mycophenolate, cyclophosphamide) and biologic drugs (rituximab, Belimumab).
But in many cases Lupus is more aggressive and so far the origin of this particular severity was quite unclear.
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HS1.2 leads to enhanced activation of the "transcription factor NF-KB" (a transcription factor is a molecule that "reads" the genes to make them work), which in turn dramatically increases the aggressiveness of the inflammatory processes underlying the disease.
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"Our results suggest that new drugs that turn off the enhancer HS1.2, or inhibit its effect on NF-KB, can stop the disease without the need for immunosuppressive drugs or other therapies with many side effects," Ferraccioli said. "Moreover the discovery of the role of this enhancer allows us to better classify patients and formulate a precise prognosis for each one moving toward more personalized care."
Source-Eurekalert