A Spanish teen's genome may hold the secret to lupus:
Researchers may have finally discovered a genetic cause of lupus, the autoimmune disorder (and elusive enemy of Dr. Gregory House).
Their study, published in Nature, points to a mutation in a gene that senses viral RNA.
Previous studies have implicated the gene, called TLR7, in lupus before, El Pais reports, but this new study identified a previously unknown variant of the gene in a Spanish teenager who was diagnosed with lupus as a child.
"We have shown for the first time how rare gene variants that occur in less than one per cent of the population cause lupus and how these variants drive the disease in the body," Simon Jiang, a researcher at Australian National University's Centre for Personalised Immunology and study author, said in a statement.
The discovery may help researchers develop a targeted treatment for lupus, Jiang said — and not just for patients with this exact rare mutation.
[...] The mutation increases the immune system's sensitivity to guanosine, one of the building blocks of DNA and RNA, Hudson expert Michael Gantier explained. This causes the infection sensor to become switched on even if there is no viral RNA present, which is what it is designed to look out for.
Confused about their target, the misdirected immune cells then begin to attack the healthy tissues.
If the researchers are correct, it may solve another vexing lupus question as well: The disease is 10x more frequent in women than men, and TLR7 sits on the X chromosome — making a possible mutation twice as likely.
Journal Reference:
Brown, Grant J., Cañete, Pablo F., Wang, Hao, et al. TLR7 gain-of-function genetic variation causes human lupus [open], Nature (DOI: 10.1038/s41586-022-04642-z)
(Score: -1, Troll) by Anonymous Coward on Wednesday May 18 2022, @11:25AM (2 children)
"...the misdirected immune cells then begin to attack the healthy tissues."
Yep, sounds just like what we have going on in real time as governments attack their healthy populations with inflation, military spending, sanctions and misinformation.
Hope they find a cure so we can apply it to our ailing governance systems.
(Score: 5, Insightful) by bzipitidoo on Wednesday May 18 2022, @12:34PM
Misdirected blame, yes. In this case, blaming the government, when actually, the problem is those of authoritarian bent, all too ready to believe conservative media lies and clickbait melodrama, and throw away government of the people, by the people, and for the people.
Maybe there is also a gene mutation that makes a person 10x more likely to develop a fascist attitude. Finding such a thing, and curing it, could be the greatest health accomplishment of the age. Better health in general reduces fascism, simply by making clearer thinking possible. I have personally experienced not being able to think as well and clearly while under the stress of working in an extremely dysfunctional work environment in which my day was filled with difficult demands, unreasonable expectations, threats of not only being fired but also of being blacklisted and my career ruined, and, if all that wasn't bad enough, deliberate, malicious sabotage complete with being told the sabotage was actually my fault, that I'd brought it upon myself by not following the plan. The saboteur was anxious that I not show him up, you see. And even though you know they're full of it, you can't help feeling doubt that maybe, just maybe, they're not completely wrong. Or, that wrong though they are, they'll nevertheless be able to make the blame stick.
I note the article announced only a finding, and said nothing about a cure. Once found, is it as good as cured, thanks to CRISPR gene editing?
(Score: 0) by Anonymous Coward on Wednesday May 18 2022, @01:03PM
> inflation, military spending, sanctions
Better to suffer economic discomfort now, when it is just Ukraine, than worse in 10 years time, when it is the whole of Eastern Europe. We have seen not so many decades ago what happens if we ignore bullies - it doesn't end well.
(Score: 1, Funny) by Anonymous Coward on Wednesday May 18 2022, @01:24PM (4 children)
I didn't know they had werewolves in Spain. This discovery could reduce their healthcare system's expenditure on silver bullets.
(Score: 1) by IP Freely on Wednesday May 18 2022, @02:09PM (2 children)
I'm not sure if you've seen a Spanish woman but when you do you'll understand. REF: https://www.xumo.tv/channel/9999727/xumo-free-movies?v=XM0GXTRI1P28YR&p=8646 [www.xumo.tv]
Old slashdot user before the 'wokening
(Score: 0) by Anonymous Coward on Wednesday May 18 2022, @02:17PM
You do realize that wasn't a documentary, I hope.
(Score: 2) by inertnet on Wednesday May 18 2022, @02:44PM
We’re Sorry…
XUMO is currently only available in the United States…
(Score: 0) by Anonymous Coward on Wednesday May 18 2022, @08:54PM
It might explain why their basketball team is so good.
(Score: 0) by Anonymous Coward on Wednesday May 18 2022, @02:34PM (3 children)
What percent of people with this mutation get lupus? What percent without the mutation do not get lupus?
Ditto for the mice studies they did.
It is amazing that this information is not front and center in a paper claiming to have found the "cause of lupus".
(Score: 3, Interesting) by HiThere on Wednesday May 18 2022, @03:46PM (2 children)
IIUC, they've only noticed the mutation, so the data to answer your question probably isn't available.
OTOH, it's my expectation that Lupus is a syndrome rather than a disease (rather like cancer) and so there will be no "the cause of Lupus", but rather only "a cause of Lupus", unless one wants to describe things at a very high level and say something like "an overly sensitive immune system", which is probably correct, but rather useless. (I didn't read the article in Nature [I probably couldn't have understood it], so I could be wrong. The first level link was no more informative than the summary.)
Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
(Score: 0) by Anonymous Coward on Wednesday May 18 2022, @06:11PM (1 child)
They should at least be able to say x% of the mice with the mutation met the criteria for lupus.
(Score: 1, Informative) by Anonymous Coward on Friday May 20 2022, @12:49AM
All of the mice did. and it was still over 90% when they tried to mitigate the effects using other methods.