Posted on 06/17/2010 9:11:03 PM PDT by neverdem
Differences in the sequence of a single gene may be partly responsible for causing around 2% of relatively common autoimmune disorders including diabetes and arthritis.
The gene codes for an enzyme called sialic acid acetylesterase (SIAE) that regulates the immune system's B cells — the cells responsible for producing antibodies against foreign invaders. In 24 of 923 people with conditions such as Crohn's disease, type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus and multiple sclerosis, the gene was present in a variant form.
For the past five years, genome-wide screens of large groups of patients have searched for commonly occurring gene variants associated with complex diseases that are unlikely to have a single genetic cause. Although many such variants have been identified, they explain little in terms of disease susceptibility. More recently, scientists have begun to wonder whether rare variants may better account for the genetic underpinnings of such diseases.
"It's still very much a question mark" whether rare variants will contribute to complex and relatively common disorders, says Jay Shendure, a genomicist at the University of Washington in Seattle who was not involved in the study. "But studies like this show that there is something to be found."
“I think this is an absolutely seminal paper.”
Shiv Pillai of Harvard Medical School in Boston, Massachusetts, and his colleagues had previously found that deactivating the Siae gene in mice leads to a condition similar to the autoimmune disease systemic lupus erythematosus1. They decided to resequence the gene in humans to probe its link to autoimmune diseases, and identified several variants in people with autoimmune disorders. Healthy people occasionally had variants of the gene as well, but when the researchers tested the different variants, they found that those in people with autoimmune diseases tended to disrupt the enzyme's function, whereas those...
(Excerpt) Read more at nature.com ...
Oh wow as a 40 year type 1 just identifing the gene could lead to much better treatments and/or cure.
autoimmune disorders run in my family. I am very happy to hear of this.
Interesting. I had (pediatric?) nephrotic syndrome, my Aunt had kidney problems, my sister and I both have had episodes of alopecia areata, and I currently have bouts of eczema.
Hopefully this research can lead to a cure because supposedly there may be a link with nephrotic syndrome at a young age and lupus at an older age.
sfl
Once your beta cells are gone, I think the best shot will come from adult stem cell therapy, IMHO.
Ping....(Thanks, neverdem!)
HEALTH PING
Thanks for the ping!
You’re Welcome, Alamo-Girl!
good news!
Gene who?
Gene Siskel I would believe.
“In 24 of 923 people with conditions such as Crohn’s disease, type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus and multiple sclerosis, the gene was present in a variant form.”
That’s not very compelling evidence!
A co-worker whose wife has all manner of auto-immune problems has reported good result with methotrexate. I simply haven't sought any treatment beyond OTC, but I know it is going to get ahead of me at some point.
That’s not very compelling evidence!
"'I think this is an absolutely seminal paper,' says Judy Cho, an immunogeneticist at Yale University in New Haven, Connecticut. The strength of it, she adds, is that it proposes a very specific hypothesis — namely, the role of the sialic acid pathway in autoimmune disease — that can now be tested."
IMHO, there are relatively very few diseases where the genetic defect is limited to a single gene.
A Decade Later, Genetic Map Yields Few New Cures
Let's see how the sialic acid pathway hypothesis pans out. It could be the needle in the haystack. Maybe not. If it does, I'll bet money that multiple genes are involved in that pathway.
Sounds like my youngest son. He had nephrosis when he was 4, and has had psoriasis and eczema ever since he got out of the Navy.
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