Genetic mutation causes lupus in mice

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."

add to favorites email to friend print save as pdf

Related Stories

Identifying targets of autoantibodies

Nov 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

Mar 01, 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

Oct 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 ...

Recommended for you

US looking past Ebola to prepare for next outbreak

6 hours ago

The next Ebola or the next SARS. Maybe even the next HIV. Even before the Ebola epidemic in West Africa is brought under control, U.S. public health officials are girding for the next health disaster.

Can robots help stop the Ebola outbreak?

15 hours ago

The US military has enlisted a new germ-killing weapon in the fight against Ebola—a four-wheeled robot that can disinfect a room in minutes with pulses of ultraviolet light.

New bird flu case in Germany

15 hours ago

A worrying new strain of bird flu has been observed for the first time in a wild bird in northern Germany, the agriculture ministry said Saturday.

Mali announces new Ebola case

Nov 22, 2014

Mali announced Saturday a new case of Ebola in a man who is fighting for his life in an intensive care unit in the capital Bamako.

Plague outbreak kills 40 in Madagascar: WHO

Nov 22, 2014

An outbreak of plague has killed 40 people in Madagascar, the World Health Organization said, warning that the disease could spread rapidly in the country's densely populated capital Antananarivo.

User 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.