Researchers have discovered the genes involved in autoimmune Addison's disease -- a condition where the body's immune systems destroy the adrenal cortex leading to a life-threatening hormonal deficiency of cortisol and aldosterone.

However, by combining the world's two largest Addison's disease registries the research team were able to identify strong genetic signals associated with the disease.

Most of them are directly involved in the development and functioning of the human immune system including specific molecular types in the so-called HLA-region (this is what makes matching donors and recipients in organ transplants necessary) and two different types of a gene called AIRE (which stands for AutoImmune Regulator).

Variants of AIRE, such as the ones identified in this study, could compromise this elimination of self-reacting cells, which could lead to an autoimmune attack later in life, they added.

Knowing what predisposes people to develop Addison's disease opens up the possibilities of determining the molecular repercussions of the predisposing genetic variation (currently ongoing in Prof Husebye's lab).

The fact that it is now feasible to map the genetic risk profile of an individual also means that personalised treatment aimed at stopping and even reversing the autoimmune adrenal destruction can become a feasible option in the future, the researchers said.

(This story was published from a syndicated feed. Only the headline and picture has been edited by FIT).