New Genes Connected to Autoimmune Disease “Lupus”

According to the Mayo Clinic, lupus is a “chronic inflammatory disease that occurs when the immune system attacks the body’s own organs and tissues”. It is exceptionally difficult to diagnose, as no two cases are the same. The name comes from the butterfly-shaped rash patients often have on their faces, which looks like the bite of a wolf, or “lupus” in Latin. Lupus not only attacks the immune system but other major systems as well, such as the cardiovascular system and causing joints to be inflamed (arthritis). Lupus raises the probability of heart disease and stroke due to long-term inflammation of the blood vessels around the heart and brain without medication.

Symptoms of this disease vary and are often similar to many other conditions. They typically begin to show in teen years to early 30s, and are much more common in women than in men, due to hormones like estrogen and progesterone. Muscle pain, rashes, headaches, Raynaud’s syndrome, fatigue, fever, and anemia are all indicators of this potentially dangerous illness. The course of lupus is often hard to predict and this disease commonly develops slow enough that the patient may be unaware for a long amount of time.

In order to diagnose, an Antinuclear Antibody (ANA) blood test is necessary. This is a type of antibody that is directed against the nucleus of a cell and is present in almost every individual with lupus. Doctors can look at patterns in these antibodies to identify the specific type of lupus a person may have. A drawback of this use of testing is that a positive result doesn’t automatically indicate lupus. Other tests are often done with phospholipids and proteins in the cell DNA. These tests are 75-95% accurate.

Until recently, the main causes were considered to be sunlight, infections, and side affects from medications. Environment used to be seen as the main role in triggering the onset of lupus. Now, however, according to Kim Kwangwoo of Hanyang University, the “Development of SLE (lupus) is strongly affected by genetic components. It has been known that genetic variations accounts for 66 percent of risk for SLE”. Although the information in this study is now known, researchers are having a difficult time pinpointing which gene to focus on as multiple genes control lupus. There are about 60 genes total that have been associated with lupus.

Swapan Nath, the author of a study in Nature Genetics, concludes that the GTF21 gene is highly involved in the development of lupus and is also linked to other neurodevelopmental disorders. There is a potential link exists between DNA methylation and lupus, however research is still underway. Another gene known to be associated with lupus is the MHC gene. This gene shapes immune responses by coding for proteins that function in response to invaders.

While there is no cure currently available for lupus, with early diagnosis and treatment symptoms can lesson. I found this issue interesting because not only does it incorporate a subject we just finished studying (genes), but also shows how this vast topic is still being researched and studied.


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