Could a Genetic Mutation be Responsible for Lupus?

Scientists have discovered a genetic mutation that may be responsible for lupus in mice.

Lupus or Systemic Lupus Erythematosus (SLE), an autoimmune disease that's estimated to affect more than five million individuals worldwide, creates widespread inflammation in the internal organs and joints, as well as the central nervous system. And though there are treatments for the health issue, unfortunately, at this time, there is no cure.

Fortunately, researchers believe that these new study findings could help provide information regarding development therapies that could potentially target the mutation.

For their study, researchers examined POL B. This is a gene that's linked to the disease that also helps to repair breaks in DNA. Previous studies have shown a link between decreased POL B expression and a weakened DNA repair, thus leading to lupus. Thus, researchers engineered mouse models infected with the mutated POL B gene.

Results showed that the mice exhibited decreased expression as well as DNA synthesis.

"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, according to MedicalXpress. "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."

More information regarding the study can be found via the journal Cell Reports.