New findings about Takayasu arteritis may lead to more effective treatment

New findings about Takayasu arteritis

According to an article published in The American Journal of Human Genetics, researchers have made new progress regarding  the genetics of Takayasu arteritis and why some people are more likely to develop this condition.

Takayasu arteritis is a granulomatous vasculitis that usually occurs in Asian women between 20-40 years. Takayasu arteritis is a systemic, rare disease ( that is it can affect all arteries in the body) affecting the aorta and the main branches of the aorta such as the left common carotid artery, brachiocephalic artery, subclavian artery, etc.; because it affects the main arteries of the upper arm this condition is also called pulseless arteritis. This vasculitis can lead to a number of serious complications such as aortic insufficiency, aortic aneurysm or pulmonary hypertension and others.

Not much is known about the etiology of this disease but it is assumed that the factors that trigger the inflammatory process are microorganisms such as streptococci, spirochetes, Mycobacterium tuberculosis, etc.. Researchers also discussed the hypothesis of an autoimmune process that is the formation of autoantibodies and the hypothesis of a genetic component. Until now previous studies have shown that there is an association between Takayasu arteritis and HLA-B and it seems that this link was seen in particular Japanase people. Takayasu arteritis is a vasculitis which means it is an inflammation of the arteries, and this inflammation can lead to several types of lesions such as obstruction, stenosis or aneurysms. It may also be associated with hypertension and heart failure.

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Now researchers at the University of Michigan have discovered five genes which are involved in the development of Takayasu arteritis. Senior author Amr Sawalha, MD, associate professor of internal medicine in the division of rheumatology at the UM Medical School, said that the discovery of the genetic components is a fundamental step towards a better understanding of the mechanism of this disease and to develop more effective therapies . These new findings are extremely useful because this disease is devastating but it is little studied and understood, said Dr. Sawalha.

According to new research, there are five areas of risk both in HLA, human leukocyte antigen, and outside HLA.Besides the already established genetic association between HLA-B and Takayasu arteritis, it seems that now researchers at the University of Michigan have discovered other new genetic risk regions: HLA-DQB1/HLA-DRB1, FCGR2A/FCGR3A, and PSMG1. Co-author of the study, Güher Saruhan-Direskeneli, MD, professor of physiology at Istanbul University, explained that they have located the genetic association with IL12B, which encodes a subunit of IL-12 and IL-23. He added that therapies that inhibit IL12/IL23 pathway, that are useful in treating other inflammatory diseases, may be effective in treating this vasculitis.