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."

Related Stories

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 ...

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, ...

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 ...

Recommended for you

Experimental MERS vaccine shows promise in animal studies

July 28, 2015

A two-step regimen of experimental vaccines against Middle East respiratory syndrome (MERS) prompted immune responses in mice and rhesus macaques, report National Institutes of Health scientists who designed the vaccines. ...

Can social isolation fuel epidemics?

July 21, 2015

Conventional wisdom has it that the more people stay within their own social groups and avoid others, the less likely it is small disease outbreaks turn into full-blown epidemics. But the conventional wisdom is wrong, according ...

Lack of knowledge on animal disease leaves humans at risk

July 20, 2015

Researchers from the University of Sydney have painted the most detailed picture to date of major infectious diseases shared between wildlife and livestock, and found a huge gap in knowledge about diseases which could spread ...

IBD genetically similar in Europeans and non-Europeans

July 20, 2015

The first genetic study of inflammatory bowel disease (IBD) to include individuals from diverse populations has shown that the regions of the genome underlying the disease are consistent around the world. This study, conducted ...

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.