Free Republic
Browse · Search
News/Activism
Topics · Post Article

Skip to comments.

Gene linked to autoimmune diseases - Rare variants of a single gene seem to make patients...
Nature News ^ | 16 June 2010 | Alla Katsnelson

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 ...


TOPICS: Culture/Society; News/Current Events; Testing
KEYWORDS: autoimmunedisease; autoimmunediseases; genetics; immunology; siae; type1diabetes
Navigation: use the links below to view more comments.
first previous 1-2021-38 last
To: neverdem

This is evidence:

http://archpsyc.ama-assn.org/cgi/content/abstract/67/2/146

Genes are important, but proper nutrition is sometimes a powerful antidote.


21 posted on 06/17/2010 11:39:30 PM PDT by devere
[ Post Reply | Private Reply | To 19 | View Replies]

To: Myrddin
I put down 4 x 200 mg ibuprofen about 30 minutes before hitting the rack so I can get to sleep.

That's not a small dose. OTC meds are not necessarily benign. They can be more than problematic.

http://www.drugs.com/pro/ibuprofen.html

22 posted on 06/18/2010 12:16:48 AM PDT by neverdem (Xin loi minh oi)
[ Post Reply | Private Reply | To 18 | View Replies]

To: neverdem; Quix

Thanks.

p.s., ND, what does your tagline mean?


23 posted on 06/18/2010 3:33:12 AM PDT by Joya (Lord Jesus Christ, Son of God, Savior, have mercy on me, a sinner!)
[ Post Reply | Private Reply | To 1 | View Replies]

To: Myrddin

I’ve been on Methotrexate for almost 17 yrs now and have tolerated it well. I’ve been getting an “experimental” drug that has helped me tremendously. It does something to the B cells which are what is causing my disease to at least be active. This drug has been approved for RA and will hopefully be approved for what I have soon.


24 posted on 06/18/2010 5:20:09 AM PDT by Calm_Cool_and_Elected (I'm a Republican and I own a cat.)
[ Post Reply | Private Reply | To 18 | View Replies]

To: GOP Poet
autoimmune disorders run in my family. I am very happy to hear of this.
 
Same here.

25 posted on 06/18/2010 6:30:20 AM PDT by united1000
[ Post Reply | Private Reply | To 3 | View Replies]

To: neverdem

There is a strong possibility that a lot of autoimmune diseases have a similar cause, and a strange one: a lack of parasites in the body.

The logic is that for millenia, humans have had to contend with a huge assortment of parasites, and so our immune systems adapted to resist them. But in their absence, the immune system is prone to false alarms, which turn it against the body.

The first big breakthrough happened in Germany, when based on this hypothesis, patients with Crohn’s disease were given sanitized “pig whip worms”. While these worms normally infest swine, they can only live in the human body for a couple of weeks. However, they provoke a strong immune response. And one that arrested the Crohn’s disease, by giving their immune systems a real target.

The next discovery came with an individual who suffered from severe, life-threatening asthma. He traveled to Africa to specifically get a colony of human hookworm. Hookworm used to be very common, but has almost been wiped out in North America through the use of outhouses and shoes, being spread in feces.

He cultivated this colony of hookworm, and periodically infects himself with it, by swabbing some nearly microscopic worms on his arm. The penetrate the skin, then travel in the bloodstream to the lungs, where they cause a mild cough, and are coughed up and swallowed. In the process his asthma is completely arrested for weeks.

Unfortunately, excessive hookworm can result in dangerous anemia in children, so this technique is reserved for adults.

But, in any event, since there are thousands of parasites that can infect humans, this opens an enormous channel of research to discover both what parasites are responsible for what autoimmune problems, and more importantly, how to replicate the effects of parasites without introducing the actual parasite.


26 posted on 06/18/2010 7:39:17 AM PDT by yefragetuwrabrumuy (Two New Episodes of 'Futurama', this June 24th, on Comedy Central)
[ Post Reply | Private Reply | To 1 | View Replies]

To: Joya
p.s., ND, what does your tagline mean?

It's Vietnamese. It means, "I'm sorry sweetheart."

27 posted on 06/18/2010 8:13:03 AM PDT by neverdem (Xin loi minh oi)
[ Post Reply | Private Reply | To 23 | View Replies]

To: neverdem

Not always. There are studies going on in Toronto that suggest otherwise.


28 posted on 06/18/2010 9:04:38 AM PDT by chris_bdba
[ Post Reply | Private Reply | To 7 | View Replies]

To: neverdem
I aware that that it isn't without potential consequences. In 1996, my doctor was trying to fix my sinus problems. She prescribed "Beconase" to reduce the inflammation. About two weeks into the use of Beconase, I noticed the pain in my backs, knees and ankles was gone. Pain free for the first time in my lifetime. That summer I set all sorts of personal records on my inline speedskates. My only limit was getting enough oxygen after 7 cases of pneumonia + Valley Fever damage. I managed 3 laps around Miramar Lake in 62 minutes (15 miles). In mid-September, the Beconase bottle was empty. Within about 5 days, I felt like I had been beaten from top to bottom with a baseball bat. Going from pain free back to my "normal" baseline was a hell of a contrast. One lap around the lake turned into a 32 minute and very painful experience.

While Beconase made for a "miracle" summer, I'm pretty sure that it isn't something that I could continue indefinitely. Another skater (an orthopedic surgeon) took ibuprofen to excess to keep the joint pain in check. His stomach blew out while he was performing surgery. Fortunately, he was in a room with other competent surgeons. It took 15 units of blood to keep him alive while the bleeding in his stomach was brought under control. "Dr. John" came close to making a premature exit from too much ibuprofen.

29 posted on 06/18/2010 9:29:15 AM PDT by Myrddin
[ Post Reply | Private Reply | To 22 | View Replies]

To: neverdem

OK? I almost hate to think. But OK. Thanks.


30 posted on 06/18/2010 9:44:54 AM PDT by Joya (Lord Jesus Christ, Son of God, Savior, have mercy on me, a sinner!)
[ Post Reply | Private Reply | To 27 | View Replies]

To: Calm_Cool_and_Elected
That's fairly good news. I was just reading through the ibuprofen link and noticed that it can increase methotrexate toxicity.

I should probably broach the subject with a doctor. I get sick so rarely that the local "ready care" facility has been all the medical services I really need. The doctor at that facility suggested that I should try to find a "regular" doctor as it may be very difficult to find one willing to accept me as a patient later. Pocatello is termed "medically under served". Doctors here tend to "accept" a limited number of patients as customers of a given practice. Finding one who will accept another can be fairly difficult.

31 posted on 06/18/2010 9:55:03 AM PDT by Myrddin
[ Post Reply | Private Reply | To 24 | View Replies]

To: Myrddin
Another skater (an orthopedic surgeon) took ibuprofen to excess to keep the joint pain in check. His stomach blew out while he was performing surgery. Fortunately, he was in a room with other competent surgeons. It took 15 units of blood to keep him alive while the bleeding in his stomach was brought under control. "Dr. John" came close to making a premature exit from too much ibuprofen.

My mother became very anemic on 8 tablets of full strength Ecotrin and 5 milligrams of prednisone daily after some genius decided she had polymyalgia rheumatica, but you need to monitor kidney function with periodic blood chemistry testing too, IMHO.

32 posted on 06/18/2010 10:15:00 AM PDT by neverdem (Xin loi minh oi)
[ Post Reply | Private Reply | To 29 | View Replies]

To: Myrddin

While ibuprofen might help manage the pain, damage is still happening in your joints. As much as I hate being on medication, it is helping to keep the disease at bay and I am hoping for a better quality of life as I age. I have been ill since age 31, I am now 48.


33 posted on 06/18/2010 11:07:21 AM PDT by Calm_Cool_and_Elected (I'm a Republican and I own a cat.)
[ Post Reply | Private Reply | To 31 | View Replies]

To: neverdem
Prednisone isn't something you want to be taking on a long term. When I discovered Beconase was a cortico steroid, it raised enough concern that I decided not to continue. I really should have arranged to tape it off, but that wasn't an option. I couldn't get a refill at the end of the bottle.

Ecotrin is essentially enteric coated aspirin so the tablet passes through the stomach before dissolving in the small intestine. Better for the stomach, but still quite capable of causing bleeding in the intestinal tract. I'm surprised there wasn't additional symptoms like ringing ears at that dosage.

There are some studies that suggest the heart benefits from aspirin are really a consequence of reducing the iron load in the body from the induced bleeding rather than the specific impact on prostaglandin production.

Aspirin inactivates both the good COX-1 and the bad COX-2. Unfortunately, COX-1 inhibition is the cause of stomach lesions and renal toxicity. COX-2 inhibition breaks the synthesis chain for substances that cause inflammation. The "ideal" approach would only block COX-2, but even that has proven to have bad side effects.

34 posted on 06/18/2010 11:10:53 AM PDT by Myrddin
[ Post Reply | Private Reply | To 32 | View Replies]

To: Calm_Cool_and_Elected

I’ll be 54 in August. The joint issues have been creeping
up since my teens. My chiropractor took a side
view x-ray of my spine 2 years ago. The inward
facing side has a “fluffy” appearance. The outward
facing side still has a pretty clearly defined bone
structure.


35 posted on 06/18/2010 11:37:45 AM PDT by Myrddin
[ Post Reply | Private Reply | To 33 | View Replies]

To: Calm_Cool_and_Elected
While ibuprofen might help manage the pain, damage is still happening in your joints.

That was some of my concern about Beconase as well. The pain was gone, but was I doing damage to my joints on the speed skates and not feeling it? When you introduce an alternative source of a normally produced substance in the body, the internal processes that create it often shut down. The feedback mechanisms say "there is already enough". If the capability completely atrophies, you've caused a permanent problem. I didn't want to provoke that possibility.

36 posted on 06/18/2010 11:57:21 AM PDT by Myrddin
[ Post Reply | Private Reply | To 33 | View Replies]

To: Myrddin

Ah. Every case is different. For me the disease affects connective tissue so that means muscles too. When they finally diagnosed me, I was unable to brush my own teeth and almost bedridden. I had to do something and fast.


37 posted on 06/18/2010 12:27:12 PM PDT by Calm_Cool_and_Elected (I'm a Republican and I own a cat.)
[ Post Reply | Private Reply | To 36 | View Replies]

To: Calm_Cool_and_Elected
I have to deal with repetitive stress injuries to my hands and forearms too. Hundreds of lines of code everyday. It's an ongoing challenge. At one point, I couldn't hold a glass of water, open a door (with a door knob) or shift my car. I had to leave the startup that was working my 14 hours a day, 7 days a week. The big stock rewards aren't much fun if you are too disabled to enjoy it.
38 posted on 06/18/2010 1:14:58 PM PDT by Myrddin
[ Post Reply | Private Reply | To 37 | View Replies]


Navigation: use the links below to view more comments.
first previous 1-2021-38 last

Disclaimer: Opinions posted on Free Republic are those of the individual posters and do not necessarily represent the opinion of Free Republic or its management. All materials posted herein are protected by copyright law and the exemption for fair use of copyrighted works.

Free Republic
Browse · Search
News/Activism
Topics · Post Article

FreeRepublic, LLC, PO BOX 9771, FRESNO, CA 93794
FreeRepublic.com is powered by software copyright 2000-2008 John Robinson