Lupus Gene Variants

New research published in the Journal of the American Society of Nephrology sheds much-needed light on the debilitating autoimmune disease lupus.

Researchers at the University of Louisville School of Medicine found that variants in a specific gene are associated with kidney complications in lupus patients. Lupus nephritis, a type of kidney inflammation, occurs in 50 to 75 percent of lupus patients, but doctors are still not entirely sure what links the two disorders.

A previous study found that mice with an inactive form of the ABIN1 protein had a disease similar to lupus, as well as increased activation of the NF-kappaB pathway and kidney inflammation. The current research shows that these kidney problems in mice are comparable to lupus nephritis in humans.

Using human samples and comparing cases of lupus with nephritis and without nephritis revealed a strong link between kidney problems and a genetic variant called rs7708392 in European Americans and a variant called rs4958881 in African Americans.

"Our studies identify genes of the NF-kappaB pathway as a focus for future work understanding the pathogenesis and therapy of lupus nephritis," said lead researcher Dr. David Powell in a press release. "Understanding the role of genes in the NF-kappaB pathway in the development and severity of lupus nephritis provides the hope that personalized therapy for the condition may be possible."

Kidney complications are serious but are not the only impact of lupus. The new study generated discussion among the Healthline community about the struggles of living with lupus and tips for staying strong after diagnosis.

Awareness Is Crucial

Lupus comes with a number of complications that differ for each patient. It is often misdiagnosed, which makes the disease that much more difficult for sufferers.

Patsy Bruno began treating her lupus several years ago after finally receiving a correct diagnosis. She now takes multiple medications daily, but the joint pain and fatigue keep her from living a more active life.

“I am a wife and mom to young children. It is very hard for them and many others to understand that I have a terrible disease and am not just lazy,” Bruno said. 

Wanda Jean’s sister was diagnosed with lupus at age 16. “It was not understood fully at that time and even less so by my mother,” she said. “My sister suffered with painful extremities, depression, the inability to get out of bed or walk. Eventually, worsening symptoms led to CHF [congestive heart failure] and death.”

“Some people don't realize how debilitating this disease is, but when you witness it for yourself and see how it destroys lives, you understand and never forget,” Jean added.

'Don’t Ever Give Up'

When Sandra Brooks was diagnosed she knew little about lupus, but learning more about her condition is helping to keep her strong.

“The diagnosis came from hair loss, but for years, I would have these awful skin rashes during the hot months of the year, and I would experience extreme fatigue and body aches. I have also had problems with viruses and infections most of my life,” Brooks said. “Once diagnosed, I have researched a lot about it. I know that diet, rest, and a healthy mental attitude go a long way.”

If you think you have lupus, be sure to do your research and consult a medical professional (more than one, if need be). That’s what it took for Jon Powell to receive a proper diagnosis and take control of his illness.

When a friend died of lupus, Powell noticed that some of their symptoms were similar, but he had no idea he too could have the disease. Years of research and persistence with medical professionals has helped him carry on with his life.

“Don’t ever give up,” Powell said. “There are plenty of doctors, so if you are not satisfied with how you are being treated or if they are not helping you, it is time to move on. It’s your life.”

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