Gene linked to autoimmune diseases - Rare variants of a single gene seem to make patients...

Nature News ^ | 16 June 2010 | Alla Katsnelson

[chris_bdba]

Oh wow as a 40 year type 1 just identifing the gene could lead to much better treatments and/or cure.

[GOP Poet]

autoimmune disorders run in my family. I am very happy to hear of this.

[Tailback]

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.

[neverdem]

FReepmail me if you want on or off the immunology and/or diabetes ping lists.

[phockthis]

sfl

[neverdem]

Oh wow as a 40 year type 1 just identifing the gene could lead to much better treatments and/or cure.

Once your beta cells are gone, I think the best shot will come from adult stem cell therapy, IMHO.

[Smokin' Joe]

Ping....(Thanks, neverdem!)

[MWestMom]

I was diagnosed with SLE in my 30’s. Mom has rheumatoid arthritis. Two of my daughters have autoimmune issues. This may not be a help to me (I've already had two strokes and kidneys are not well); but hope that it helps my kids in the future! Very exciting.

[Quix]

HEALTH PING

[Alamo-Girl]

Thanks for the ping!

[Smokin' Joe]

You’re Welcome, Alamo-Girl!

[bitt]

good news!

[higgmeister]

Gene linked to autoimmune diseases ...

Gene who?

Gene Siskel I would believe.

[Myrddin]

It would be nice for this to bear some fruit. RA hurts. Daily ibuprofen helps, but only holds the problem in check.

[devere]

“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!

[neverdem]

Have you tried methotrexate?

http://www2.cochrane.org/reviews/en/ab008495.html

[Myrddin]

Not yet. I'm starting to see some impacts in the middle joint of my little finger. It's the spine, knees and ankles that are most annoying. During my daytime hours, I'm focused on work and can just endure the. Not so when I'm trying to sleep. I put down 4 x 200 mg ibuprofen about 30 minutes before hitting the rack so I can get to sleep.

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.

[neverdem]

“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!

"'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.

[redhead]

"I had (pediatric?) nephrotic syndrome,...currently have bouts of eczema."

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.