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Scientists Find Genetic Mutation That Causes Lupus

Update Date: Jan 03, 2014 07:11 PM EST
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Scientists have found a genetic mutation that causes lupus in mice.

Researchers said the latest findings could lead to the development of therapies that target the mutation.

Lupus or Systemic Lupus Erythematosus (SLE) is an autoimmue disease that affects five million people worldwide. It can cause widespread inflammation in internal organs as well as joints and the nervous system, and the disease have no cure.

Researchers examined POL B, a gene that has been linked to lupus. The gene helps repair breaks in DNA. Previous studies have linked decreased POL B expression, which results in weakened DNA repair, to lupus.

To understand the link, researcher engineered mouse models with mutated POL B. They found that these mice exhibited decreased expression and significantly slower DNA synthesis. These mice also developed 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, 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."

The findings are published in the journal Cell Reports.

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