Study Suggests Two Genetic Mutations Linked to Development of Lupus

According to a publication from Science Alert, a recent study headed by Dr. Simon Jiang suggests that two rare genetic mutations may be responsible for most cases of lupus.

The study is the first of its kind to propose a specific origin of the disease. Lupus has long been thought to be partially affected by genetics, but the identification of a “smoking gun” mutation has long eluded scientists.

About Lupus

If you’re like me and watched House as it aired, the word “lupus” is already very familiar to you.

It seemed that every episode, no matter what patient arrived, no matter what their symptoms, lupus was considered as a potential diagnosis by the crack medical team. At the time it seemed almost like a running joke, but in reality it was a pretty accurate reflection of just how varied a condition lupus is.

Lupus is an autoimmune disorder, a type of characterized by a malfunctioning immune system that indiscriminately targets both pathogens and healthy tissues of the host body. Over time, this immune response can irreparably damage vital organs. Apart from that, though, there is little similarity between any two cases of lupus.

Lupus can cause kidney, brain, lung, heart, and even blood complications. Symptoms are, understandably, equally varied – headaches, dizziness, pleurisy (lung inflammation), anemia, and eventually kidney failure are all commonly reported.

Women and people of African, Hispanic, and Asian descent are all more likely to develop lupus, though the reasons why are still poorly understood.

With treatment and diligent follow-up, 80-90% of people with lupus have normal life expectancy. Some cases are fatal, though – and currently, no cure exists.

Study Links Lupus to Two Mutations

After six years of research, Dr. Simon Jiang and his team of scientists identified two genetic mutations that were present in most of the lupus patients they examined.

These mutations had previously been ignored by researchers. However, Jiang’s research suggests that the mutations may be responsible for the overproduction of type one interferon (type I INFS). Type I interferon is an important cytokine, a kind of signalling protein that directs the immune system to get to work in a given area.

Jiang and his colleagues from the Australian National University believe that mutations to genes BLK and BANK1 cause the body to produce an overabundance of type I interferon, thereby triggering immune response throughout the body – even in the absence of a foreign pathogen.

The mutations, which occur in less than 1% of the population, were found to occur in lupus patients with much greater regularity than healthy individuals.

Identifying a genetic cause for lupus could be one of many first steps on the path to curing the condition. Though further inquiry will be required to corroborate Jiang’s findings, the news is still an exciting development to a community for whom progress is rare; in 2011, the FDA approved the first new drug designed to treat lupus in nearly fifty years.

The original study was published in the scientific journal Nature Communications


Lupus is notoriously varied in its forms and severity. Why do you think it’s important to establish a specific genetic link to the condition? Share your thoughts with Patient Worthy!

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