Genetic mutation causes lupus in mice

January 3, 2014 by Helen Dodson, Yale University

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

Drugs that stop mosquitoes catching malaria could help eradicate the disease

September 18, 2018
Researchers have identified compounds that could prevent malaria parasites from being able to infect mosquitoes, halting the spread of disease.

Vaccine opt-outs dropped slightly when California added more hurdles

September 18, 2018
In response to spiking rates of parents opting their children out of vaccinations that are required to enroll in school—and just before a huge outbreak of measles at Disneyland in 2014—California passed AB-2109. The law ...

New evidence of a preventative therapy for gout

September 17, 2018
Among patients with cardiovascular disease, it's a common complaint: a sudden, piercing pain, stiffness or tenderness in a joint that lasts for days at a time with all signs pointing to a gout attack. Gout and cardiovascular ...

"Atypical" virus discovered to be driver of certain kidney diseases

September 14, 2018
An international research team led by Wolfgang Weninger has discovered a previously unknown virus that acts as a "driver" for certain kidney diseases (interstitial nephropathy). This "atypical" virus, which the scientists ...

Flu shot rates in clinics drop as day progresses, but nudges help give them a boost

September 14, 2018
Primary care clinics experienced a significant decline in influenza vaccinations as the day progressed, researchers from Penn Medicine report in a new study published in JAMA Open Network. However, "nudging" clinical staff ...

Rare antibodies show scientists how to neutralize the many types of Ebola

September 13, 2018
Two new studies by scientists at Scripps Research are bringing Ebola virus's weaknesses into the spotlight, showing for the first time exactly how human and mouse antibodies can bind to the virus and stop infection—not ...

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.