RE: Bang upto date piece on Lupus11 May 2022 15:46
Hi C79 - This article from latest New Scientist suggests lupus may have links to a gene mutation.
"The DNA of a girl with a severe form of lupus may have helped uncover a genetic cause for the autoimmune condition.
Lupus causes inflammation that can lead to joint pain, skin plaques (pictured) and fatigue. The cause is a bit of a mystery, making it difficult to develop treatments. Most therapies dampen the immune system, leaving people more vulnerable to infections.
To hunt for possible genetic causes, Grant Brown at the Australian National University in Canberra and his team sequenced the genome of a girl called Gabriela, who was diagnosed aged 7. Her age meant a genetic factor was more likely to be involved.
The work revealed that she has a mutation in a gene called TLR7, which encodes a protein called toll-like receptor 7. This normally helps the immune system spot foreign agents so it can mount suitable attacks against infections.
Mice given this mutation ended up with lupus-like symptoms. The mutation probably makes it harder for the immune system to tell foreign agents and healthy tissue apart (Nature, doi.org/hrwp).
However, such mutations have only been identified in two other people with lupus so far, suggesting the faulty gene isn’t the only cause of the condition. Brown’s team is now exploring whether drugs that target TLR7 could treat lupus."