Leading the way to a cure

Lupus Research Update: 2013 Volume 4

Volume 4, 2013 | In This Issue

2013: Celebrating a Year of Accomplishments >
Collaboration to Accelerate Pace of Lupus Research >
TREX1 Gene Mutation: An Avenue to Target Lupus >
Getting One Walk Up and Running while Another Approaches $1 Million Threshold >
A Grateful Message to the ALR Family of Supporters >
Lupus News Corner >

TREX1 Gene Mutation:

An Avenue to Target Lupus

Nan Yan, PhD, from UT Southwestern Medical Center, offers a unique approach to lupus research. In his post-doctorate work at Harvard Medical School, Dr. Yan studied HIV virology, where he first started examining the TREX1 gene that is critical for HIV to escape host immune detection. A relative newcomer to lupus research, Dr. Yan is now using his expert knowledge of this gene to solve some fundamental questions about lupus.

Specifically, Dr. Yan is investigating mutations in the TREX1 gene, as it pertains to disorders of the immune system. Under normal circumstances, TREX1 helps the body break down unnecessary DNA molecules or fragments that may be generated during the copying of cells’ genetic material or other undefined processes.

People who carry mutations in TREX1 display lupus or lupus-like symptoms, and the genetic association is very strong.

Dr. Yan explains: “This gene acts to suppress the immune response. When there are mutations, the immune response goes awry, resulting in autoimmunity.”

While only approximately two percent of people with lupus have mutations of the TREX1 gene, this area of study offers much hope for everyone battling the disease. In researching TREX1 function, Dr. Yan and his team have discovered a panel of genes that can be used as a biomarker to track disease progression, which could lead to possible new diagnostics.

“The drug approval process is lengthy and highly complex,” said Dr. Yan. “One reason for this is there isn’t an easy way to measure how effective a drug is. A TREX1 biomarker could greatly change this scenario — not only in initial diagnosis, but also when we have a drug, we can measure its efficacy.”

With his ALR funding, Dr. Yan is also evaluating methods to prevent the nucleic acid substances associated with TREX1 from stimulating unintended immune responses that may lead to lupus. This could result in exciting new treatments for the disease.

“We’re attempting to completely shut off the immune response based on new molecular knowledge — that’s almost as effective as a cure for lupus,” explained Dr. Yan. With murine models, he has already witnessed improved survival due to reduced inflammation.

Gratefully acknowledging the ALR’s cure-focused approach, Dr. Yan said: “The ALR is open to supporting young investigators who don’t necessarily have a lot of experience with the disease. I’m a prime example. Coming in as an HIV virologist, my lupus research is entirely supported by the ALR, and I’m very grateful for the opportunity.” Clearly, Dr. Yan has already made some interesting discoveries that hold the promise of better, more cost-effective treatments.

1.5 million

people in the U.S. have Lupus.

172 million

dollars committed to lupus research by the Lupus Research Alliance.

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