Ankylosing Spondylitis "Almost Nailed" with Discovery of Two Causative Genes
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| Illustration: Anne Asher 2007 Licensed to About.com |
An international collaboration of researchers has identified two new genes responsible for the occurrence of ankylosing spondylitis, a debilitating form of arthritis that affects the spine. Only one other genetic cause of this disease – HLA-B27 - has ever been found (34 years ago), and according to press materials accounts for around 40% of cases. Now with the addition of ARTS1 and IL23R, the researchers assert that they can determine the cause of 70% of the AS cases. According to Dr. John D. Reveille, one of the principal researchers involved in the study, “we’ve almost nailed this disease”. He anticipates that researchers will identify all genes that play a role in AS within the next few years. Both ARTS1 and IL23R are involved in immune function.
The markers were identified by a comprehensive scan of the human genome that compared DNA samples of 1000 AS patients with 1500 healthy patients. Researchers were also looking for genetic data on breast cancer, Graves disease, and multiple sclerosis.
It was already known that IL23R is linked with inflammatory bowel disease (Crohn’s disease) and psoriasis. According to press materials, AS, Crohns, and psoriasis tend to occur together, but with the new data on the gene, scientists can now understand more about how this happens.
The value of this discovery will become evident as new screening, diagnosis and risk assessment tools, and treatments are developed. In particular, Reveille says that screenings for people with back pain can be given to determine if AS is the cause. As I mentioned on this blog the other day, one of the problems for people with AS is that primary step of getting it diagnosed – AS is often mistaken for more common back conditions.
According to press materials, the discovery of ARTS1 and IL23R will likely spawn clinical trials leading to a new class of medicine for ankylosing spondyllitis.
The study also confirmed two genes - TSHR and FCRL3 - as causes of Graves Disease.
The collaborating researchers were from the Wellcome Trust Case Control Consortium (UK) and the Australo-Anglo-American Spondylitis Consortium. Their findings were reported in the October 21 online issue of Nature Genetics.
| More About the Discovery | Diagnosing Back Pain | Ankylosing Spondylitis |
This is great news for people who suffer from AS like myself, hopefully this discovery will lead to better medication and/or a possible cure for this insidious disease.
Thanks for your comment, Jason. I will be researching this topic thoroughly early next year, will dig up everything I can find, and continue to post on the topic.
Some really good information although quite general in depth. It would be good to have some more finding from studies being done on back pain such as the recent one published in Lancet which basically found that manipulation of the spine as a cure for back pain was no more effective than a course of panadol and some rest. Considering the huge amounts of money spent of Chiropractic and PT manipulations this information would be very valuable for sufferers.
Thanks for pointing that out, Steve.
Fantasic news for the young ones but it comes abot 50years to late for me.I have had the disease sice early childhood but was never diagnosed until I had a fully fused spine.My orthipidic surgeon couldnt see it .I suppose im jealous but it is great news
Hello friends. I am Bhushan Ghate. I am suffering from ankylosing spondylitis since 1989 & i am bedridden since 1996. I had tested positive for HLA-B27. I am anklose from neck to knee. My bone density is very low. I am taking diseases modifying drug. It has reduce my pain very much.I have to undergo both knee & complete hip replacement. But my AS is still in active state & because of low bone density doctor has said no to my replacement surgery. I want to meet people who are suffering from any kind of arthritis or any one who is interested in arthritis. If any one want to mail me my email id is bhushanghate2007@gmail.com. Also any body want to chat with me my email address are buddylovesfriends@yahoo.com or buddylovesfriends@hotmail.com. Thanx
I am a female AS patient was diagonoised in `1997 with fibromylga. In 2005 With AS. The original doctor that diagnoised me made an unusual comment about my blood work. Seems that he found floating tails from a bacterial infection that I had had at some point. Now that odd comment makes a litle sense. I was diagnoised in my 50’s I am on both remicade and on Lyrica. My blue cross insurance just stopped paying for the lyrica and am now having to find something else to treat cronic pain
I am an AS sufferer.
But I found a way out. I use turmeric, which removes inflammation. I feel less achy and better.
a teaspoon will do daily
Thanks
Sujit
I am suffering from AS since 1985, taking antiinflamatory tablets in high dose. If any body know treatment please share me in my mail: shakyasagar@hotmail.com.
Mr. Sujit please tell me more about turmeric .