Research Links Genetic Mutation to Lupus
Posted 8/6/2007
A gene called TREX1 has been linked to systemic lupus erythematosus (SLE; lupus) and related autoimmune diseases. The finding, reported online in Nature Genetics, is the latest in a series of advances that shed new light on what goes wrong in human cells to cause autoimmune diseases.
“This research is a huge leap toward understanding the cause of lupus and related autoimmune diseases,” said Fred Perrino, PhD, a co-author on the article and a professor of biochemistry at Wake Forest University School of Medicine in Winston-Salem, N.C. “We’re connecting the dots to understand the biology of what’s going on with the disease.”
The study involved 417 people with lupus from the United Kingdom and Germany. Genetic mutations were found in nine patients with lupus and were absent in 1,712 people without lupus. The data identify a stronger risk for developing lupus in patients that carry variants of the gene.
The gene manufactures a protein, also known as TREX1, whose function is to unravel DNA. The disassembly occurs during the natural process of cells dying and being replaced by new cells. If a cell’s DNA isn’t degraded during cell death, the body develops antibodies against it.
“If the TREX1 protein isn’t working to disassemble the DNA, you make antibodies to your own DNA and can end up with a disease like lupus,” said Perrino.
The researchers hope that understanding more about the gene’s mutations and the structure of the protein may lead to drug treatments to help ensure that mutant copies of the gene are inactive.
Lee-Kirsch MA, Gong M, Chowdhury D, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nature Genetics 2007;39:1065 -7. Published online: 29 July 2007 | doi: 10.1038/ng2091
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