For the first time, scientists discover the genetic variants behind lupus

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Insulitis Autoimmune Diseases
A histological image of an insulitis, an inflammatory infiltration of the islets of Langerhans of the pancreas, which precedes the development of manifest autoimmune diabetes. (Credits - Wikimedia Commons)

A group of scientists from the Australian National University (ANU) have found that for the first time that very rare mutation of the gene is responsible for lupus. This is being considered as a groundbreaking discovery and it will change the understanding of the disease. It will also bring a change in the diagnosis and treatment of the disease which will be saving many lives. The study was published in the Nature journal.

Lupus falls in the category of the autoimmune diseases and currently, it has no cure. It mainly targets the tissues in the human body which are healthy thereby causing pain and inflammation. It can affect several parts of the body such as the heart, lungs and kidneys.

The actual cause of the disease is not properly understood by the doctors. Till now it has been known that it occurs due to a mix of the genetics and the surrounding conditions.  This understanding is now changed, thanks to a genetic breakthrough by researchers Dr. Simon Jiang, Dr. Vicki Athanasopoulos, and Professor Carola Vinuesa. It has been diagnosed mostly in women and in the age range of 15-45.

Doctor Simon Jiang, who is one of the leaders of the study is a researcher at the Centre for Personalised Immunology at Australian National University. He has been involved in the research for six years to find out the hidden genetic signals in the DNA which causes the disease. He said that they have been successful in showing for the first time how the rare variants of the gene which are present in less than one percent of the entire human population cause lupus.

He remarked that till now these rare gene variants were not considered significant in the autoimmune conditions of the human being. However, it is because of these variants that the immune system cannot function properly.

When the immune system of the body fails, it cannot distinguish between the useful microbes and bacteria, virus leading to lupus. This creates great potential for effective treatment. Dr Jiang has already started the necessary therapies in his patients which are only targeted towards the rare gene variants instead of the ones which are not specific and bring about lots of side effects in the human body.

These rare gene variants are not just responsible for lupus but they also cause other autoimmune diseases such as type 1 diabetes. This will also help in finding the severity of the disease. This disease is very difficult to diagnose properly since there are a lot of similar symptoms but they are actually not lupus.

It is also a personal achievement for Dr Jiang since he has seen many patients suffering from autoimmune diseases die due to unavailability of proper treatment.

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