Researchers in a new study at the University of Edinburgh have honed in on five of 89 independent variations in human genetics that are believed to be responsible for autoimmune conditions, from lupus and multiple sclerosis to rheumatoid arthritis and asthma. Understanding how these mechanisms work could help scientists to develop new treatments.
The team found that a mutation in the ADAR1 gene causes a defect in an “alarm system” in cells that normally protects the body from viruses and other infections by triggering the body’s immune system to fight. The mutation causes this alarm system to be tripped by the cell’s own molecules, thus causing the immune system to attack – the uniting trait of all autoimmune diseases such as lupus.
The ADAR1 mutation and the others identified by the researchers together helped reveal the system that helps the body to differentiate between normal RNA and RNA from foreign organisms. The exact problem with this mechanism that characterizes autoimmune disorders differs for each, as the body’s way of attacking itself is unique and presents no two symptoms that are exactly alike, even within families.
There are more than 80 types of autoimmune diseases affecting 5-8 percent of the American population. There are no obvious patterns in autoimmune disease; individuals of any age and sex may be affected, making the process of pin-pointing important genes extremely difficult.
Finding the ADAR1 mutation is a huge step toward learning more about autoimmune diseases and what exactly they do to the human body when active. Mapping the relevant mutations and their chemical signatures in the body helps reveal the exact mechanisms by which autoimmune diseases occur and cause harm – hopefully providing new targets for doctors trying to treat these stubborn and pernicious disease.