Genetic mutation causes lupus in mice

January 3, 2014 by Helen Dodson

Yale researchers have identified a genetic mutation that leads to lupus in mice. The discovery could open the way for development of therapies that target the mutation. The study appears in Cell Reports.

Systemic Lupus Erythematosus (SLE) is an autoimmune disease that causes widespread inflammation in internal organs as well as joints and the nervous system. It affects five million people around the world. The first sign of lupus may be severe joint pain or a butterfly-shaped rash on the face. There is no cure.

The research team focused on a gene known as POL B, which functions to repair breaks in DNA. Decreased POL B expression, which results in weakened DNA repair, has been linked to SLE.

To test whether this was true, researchers constructed mouse models with mutated POL B. They exhibited decreased expression and much slower DNA synthesis. The mice subsequently developed disease characteristics that strongly resemble SLE, including dermatitis and renal disease.

"This finding implicates abnormal DNA repair as one of the causes of lupus in people," said senior author Joann Sweasy, professor of therapeutic radiology and genetics at Yale School of Medicine and member of Yale Cancer Center. "This mouse model of SLE will be useful to study how abnormal DNA repair is linked to lupus and to identify new drugs to treat this disease."

Explore further: Identifying targets of autoantibodies

Related Stories

Identifying targets of autoantibodies

November 25, 2013
Patients with the autoimmune disease systemic lupus erythematosus (SLE) produce autoantibodies that target can cause damage to multiple organ systems. The host factors that are targeted by autoantibodies produced by SLE patients ...

A nanogel-based treatment for lupus

March 1, 2013
Systemic lupus erythematosus (SLE) is disease in which the immune system mistakenly attacks healthy tissues, resulting in inflammation and tissue damage. Current treatments are focused on suppression of the immune system, ...

A surprise mechanism uncovered in the development of lupus

October 25, 2012
In a study with a surprising outcome, scientists at Yale School of Medicine have discovered that an enzyme complex known for promoting natural resistance to bacteria and fungi unexpectedly inhibits the development of lupus. ...

Predictors of organ damage identified in patients with SLE

December 16, 2012
(HealthDay)—Patient age, hypertension, and corticosteroid use are the most important predictors of the cumulative organ damage that occurs in patients with systemic lupus erythematosus (SLE), according to research published ...

Research: Lupus drugs carry no significant cancer risk for patients

January 24, 2013
People who take immunosuppressive drugs to treat lupus do not necessarily increase their cancer risk according to new research led by scientists at the Research Institute of the McGill University Health Centre (RI-MUHC). ...

Researchers finds Irish Lupus patients likely to benefit from new treatment

May 7, 2013
Researchers from the Royal College of Surgeons in Ireland (RCSI) have discovered that a new treatment for the inflammatory condition, Systemic Lupus Erythmstosus (SLE) could potentially benefit Irish patients who suffer from ...

Recommended for you

Phase 3 trial confirms superiority of tocilizumab to steroids for giant cell arteritis

July 26, 2017
A phase 3 clinical trial has confirmed that regular treatment with tocilizumab, an inhibitor of interleukin-6, successfully reduced both symptoms of and the need for high-dose steroid treatment for giant cell arteritis, the ...

A large-scale 'germ trap' solution for hospitals

July 26, 2017
When an infectious airborne illness strikes, some hospitals use negative pressure rooms to isolate and treat patients. These rooms use ventilation controls to keep germ-filled air contained rather than letting it circulate ...

Researchers report new system to study chronic hepatitis B

July 25, 2017
Scientists from Princeton University's Department of Molecular Biology have successfully tested a cell-culture system that will allow researchers to perform laboratory-based studies of long-term hepatitis B virus (HBV) infections. ...

Male hepatitis B patients suffer worse liver ailments, regardless of lifestyle

July 25, 2017
Why men with hepatitis B remain more than twice as likely to develop severe liver disease than women remains a mystery, even after a study led by a recent Drexel University graduate took lifestyle choices and environments ...

Mind-body therapies immediately reduce unmanageable pain in hospital patients

July 25, 2017
Mindfulness training and hypnotic suggestion significantly reduced acute pain experienced by hospital patients, according to a new study published in the Journal of General Internal Medicine.

Research examines lung cell turnover as risk factor and target for treatment of influenza pneumonia

July 24, 2017
Influenza is a recurring global health threat that, according to the World Health Organization, is responsible for as many as 500,000 deaths every year, most due to influenza pneumonia, or viral pneumonia. Infection with ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.