Scientists have identified a number of genes involved in Lupus, a devastating autoimmune disease, in new research published today in the journal Nature Genetics.
In an international genetic study of more than 3,000 women, researchers found evidence of an association between Lupus (systemic lupus erythematosus or SLE) and mutations in several different genes.
The findings, by scientists from Imperial College London and institutions in the USA and Sweden, will enable researchers to investigate the specific pathways and precise molecular mechanisms involved in developing Lupus, potentially opening up options for new therapies. Lupus is a complex condition, mostly affecting women, which frequently causes skin rash, joint pains and malaise, and which can also lead to inflammation of the kidneys and other internal organs.
The scientists discovered the strongest associations with Lupus in three genes: ITGAM, PXK, and one mutation within a gene KIAA1542, a gene whose function is not definitely known.
The ITGAM gene provides code for a molecule involved in a system, known as the complement system, which forms part of the body's immune response. Complement is a series of proteins in the blood which is designed to stick to the surface of bacteria and bugs in order to enable them to be attacked by the immune system.
The discovery of variations in the ITGAM gene in people with Lupus supports the idea that abnormalities in the way complement and antibodies bind to immune cells play a key part in the disease. It is already known that people with Lupus often have low levels of complement in their blood.
The role of the molecules encoded by the PXK gene and KIAA1542 genes in Lupus is less easy to predict, and the discovery of their association is more surprising to the researchers, opening up new avenues of research into the disease.
Other genes, including LYN and BLK, also appear to be involved in Lupus. These
|Contact: Laura Gallagher|
Imperial College London