Navigation Links
A genetic accelerator hits the gas on autoimmune diseases

A "genetic accelerator" is responsible for the most severe cases of Lupus (systemic lupus erythemathosus), an autoimmune disease: the accelerator, called enhancer HS1.2, speeds up the activity of some critical genes of the immune system involved in the disease.

A team of Italian researchers at the Catholic University of Sacred Heart in Rome found that the enhancer HS1.2 is like the accelerator of the car and boosts the pathological immune response typical of the disease by enhancing the production of the pathological antibodies that attack the patient's body instead of defending it (autoantibodies).

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.

Italian researchers discovered that the cause of the most severe cases is the accelerator HS1.2 enhancer. Enhancers are DNA sequences that accelerate the activation of neighboring genes and enhance their functioning, hence the name.

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.

Italian researchers have discovered that over 30 per cent of the patients has the enhancer HS1.2 in their Dna and that it causes a more severe form of Lupus.

The researchers reached this finding after demonstrating that the enhancer HS1.2 promotes also other autoimmune diseases such as rheumatoid arthritis and identified how the enhancer causes increased susceptibility to autoimmune diseases.

"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."


Contact: Gianfranco Ferraccioli
Catholic University of Rome

Related medicine news :

1. UNC scientists collaborate to find first major genetic mutation associated with hereditary prostate cancer risk
2. TGen researchers map potential genetic origins, pathways of lung cancer in nonsmokers
3. Genetic predisposition to disease common in 2 supercentenarians: New study
4. Doubt Cast on Use of Genetic Test Before Plavix
5. Analysis does not support genetic test before use of anti-clotting drug
6. Key genetic error found in family of blood cancers
7. Researchers describe a new genetic program that converts static cells into mobile invasive cells
8. Autism Speaks Autism Genetic Resource Exchange joins NIH National Database for Autism Research
9. Study probes genetic link to sickle cell pain management
10. Unique genetic marker may improve detection of recurrent ovarian cancer
11. Scientists identify strategies to conquer lifestyle and genetic factors related to chronic diseases
Post Your Comments:
(Date:6/26/2016)... ... June 26, 2016 , ... Brent Kasmer, a legally blind and certified personal trainer is ... a fitness app. The fitness app plans to fix the two major problems leading the ... one size fits all type program , They don’t eliminate all the reasons ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits of ... of the latter, setting the bar too high can result in disappointment, perhaps even ... progress toward their goal. , Research from reveals that behind ...
(Date:6/24/2016)... ... June 24, 2016 , ... The Pulmonary Hypertension Association ... it will receive two significant new grants to support its work to advance ... 25th anniversary by recognizing patients, medical professionals and scientists for their work in ...
(Date:6/24/2016)... ... June 24, 2016 , ... People across the U.S. are ... Code Talker Award, an essay contest in which patients and their families pay tribute ... presented at the 2016 National Society of Genetic Counselors (NSGC) Annual Education Conference (AEC) ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... OAKLAND, N.J. , June 24, 2016 /PRNewswire/ ... in the design, development and manufacturing of collagen ... and regeneration announced today that Bill Messer ... Sales and Marketing to further leverage the growing ... surgery medical devices. Bill joins the ...
(Date:6/24/2016)... Va. , June 24, 2016 The ... set of recommendations that would allow biopharmaceutical ... (HCEI) with entities that make formulary and coverage decisions, ... the "value" of new medicines. The recommendations ... does not appear on the drug label, a prohibition ...
(Date:6/24/2016)... 2016   Pulmatrix, Inc ., (NASDAQ: ... drugs, announced today that it was added to the ... its comprehensive set of U.S. and global equity indexes ... important milestone for Pulmatrix," said Chief Executive Officer ... our progress in developing drugs for crucial unmet medical ...
Breaking Medicine Technology: