Uncovered Genetics Help Combat Rare Disease, Takayasu's Arteritis

Researchers believe they may have uncovered the genetics behind the debilitating disease known as Takayasu. This form of arteritis can lead to poor circulation, tiredness in the legs and arms and even organ damage and possibly stroke.

Yet researchers at the University of Michigan believe they have identified five key genes tied to the disease that could provide new treatments.

"Discovering the genetic makeup of Takayasu arteritis is a pivotal step that will lead to fundamental understanding of the disease mechanisms and developing therapies to more effectively treat it," said senior author Amr Sawalha, M.D., associate professor of internal medicine in the division of rheumatology at the U-M Medical School, via a press release. "This disease can be devastating but is understudied and poorly understood."

Takayasu arteritis is a rare group of disorders that's caused by blood vessel inflammation with primary damages to the aorta and it's main branches. The goal of treatment is to help relieve inflammation in the arteries and potentially prevent any complications that can occur with the disease. However, the Mayo Clinic notes that even with early detection and treatment, symptoms of the disease can be difficult and painful to manage.

The disease is most commonly seen in women and typically occurs between the ages of 20 and 40.

These new findings increase the number of genes linked to the susceptibility of the disease to five risk areas both in the inherited group of genes known as human leukocyte antigen and outside the HLA.

"We have established and localized the genetic association with IL12B, which encodes the P40 subunit of the interleukin-12 (IL-12) and IL-23," said Güher Saruhan-Direskeneli, M.D., professor of physiology at Istanbul University and co-author of the study, via the release. "Therapies to inhibit the IL12/IL23 pathway have been successful in other inflammatory diseases, and these recent findings support investigating this pathway closer in Takayasu arteritis as a potential therapeutic target."

More information regarding the study can be found in the American Journal of Human Genetics.