I wonder what implications this has for other autoimmune diseases. I personally suffer from Ulcerative Colitis, and would love to see this kind of foundational research done instead of new sets of immunomodulatory drugs.
Researchers trace a form of lupus back to a single mutation
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Re: Researchers trace a form of lupus back to a single mutation
#12The report says the cause was identified as a single letter change for the case of one individual patient. I was hoping to read if they tested other lupus sufferers to see if this change was the cause for more than the one patient they identified. Don't get me wrong -- I'm sure I'm they're investigating exactly that, but I was hoping the article had some news on that front.
The paper's supplementary materials (available from [0]) include an extended case report, which seems pretty interesting.
> [After doing a gene sequence of the patient, we] identified no structural and sequence variants in genes known to be associated with [systemic lupus erythematosus] or diseases of immune dysregulation. However, we detected a [single allele mutation] of unknown significance in [the patient] and her father who had not yet come to medical attention.
The paper seems to be a deep-dive into exploring whether this single mutation is sufficient to explain the micro-characteristics of lupus and concludes that it does.
Given that this mutation was not documented in any public or intra-institution databases, I would expect that this is NOT an explanation for all cases of lupus. It's possible that, like many other genetic- and developmentally-linked disorders, lupus is a cloud of similar outcomes due to many different aberrations.
The biochemistry in the supplementary materials goes WAY over my limited knowledge, but it appears that the researchers went from "this is a weird DNA sequence" to actually manufacturing and testing the (incorrect) proteins in order to conclude that this patient's case of lupus is due to this single mutation. That seems like absolute wizardry. (But I'm also an outsider extrapolating from the linked article and the supplementary materials of the paper.)
[0] https://www.science.org/doi/10.1126/sciimmunol.adi9575?url_v...
Re: Researchers trace a form of lupus back to a single mutation
#13So this means we can correct for this at the fetal stage now? Or possibly with CRISPR based gene replacement since it just one SNP.
Maybe I'm missing something but there's not evidence in the linked paper that this is the only trigger for lupus, just a possible single one.
Re: Researchers trace a form of lupus back to a single mutation
#14I always wondered about Lupus. An ex-boss of mine was insanely into health. Had a yoga studio for years and only ate the healthiest food. He got Lupis at 55. The other interesting thing is that his dad lived until he was 110.
Yeah Lupus triggered later in life has probably other causes that remain unclear
Re: Researchers trace a form of lupus back to a single mutation
#15Oof. My sister was diagnosed with lupus when she was about my age. I’d love to have a genetic test that said no, you’re just allergic to the family cat, stop worrying about it.
Re: Researchers trace a form of lupus back to a single mutation
#16I wonder if there's a viral trigger to some of these mutations, similar to the way EBV is implicated in the development of MS. It would also be interesting to do a longitudinal study in families that tend toward autoimmunity evaluating infant DNA to DNA later in life if they develop lupus to see when the mutuation occurs: is it present at birth or acquired?
I strongly suspect there absolutely is. Just look at the legions of patients suffering from long COVID (which btw, is still a thing even if you get vaccinated, though getting vaccinated significantly improves your chance of living and uh...not getting long COVID or sometimes even COVID to begin with), and compare the symptoms of those patients that had sepsis, septic shock, or were in the ICU for some reason. To see folks with the exact same reason with nothing else similar is kind of mind blowing.
The virus human relationship is something we are long overdue to understand.
I could practically write it on my gravestone.
P.S. You folks don't want COVID or PICS or any other disease, so please get vaccinated, keep ALL your vaccines up to date. Oh and if you aren't vaccinated for measles, please do so, because if you aren't vaccinated against it and catch it, you have to do every single one of those vaccinations all over again because your buddy "M" reset your immune system.
Re: Researchers trace a form of lupus back to a single mutation
#17The report says the cause was identified as a single letter change for the case of one individual patient. I was hoping to read if they tested other lupus sufferers to see if this change was the cause for more than the one patient they identified. Don't get me wrong -- I'm sure I'm they're investigating exactly that, but I was hoping the article had some news on that front.
Yeah...this sounds great but, maybe, like before declaring "Lupus Trigger Discovered", we should have a sample size of more than 1.
Critically it's more like "a" lupus trigger discovered. And there may be many.
Re: Researchers trace a form of lupus back to a single mutation
#18This makes sense within the emerging literature about TLR7 signaling and lupus. There was a high profile paper in Nature in 2022 about lupus and TLR7: https://www.nature.com/articles/s41586-022-04642-z
Re: Researchers trace a form of lupus back to a single mutation
#19I wonder what implications this has for other autoimmune diseases. I personally suffer from Ulcerative Colitis, and would love to see this kind of foundational research done instead of new sets of immunomodulatory drugs.
UC is one of several autoimmune conditions linked to the HLA-B27 gene variant! A blood test showed that I carry the gene and I wound up with Crohn's, AS, and relapsing polychondritis.
Re: Researchers trace a form of lupus back to a single mutation
#20I always wondered about Lupus. An ex-boss of mine was insanely into health. Had a yoga studio for years and only ate the healthiest food. He got Lupis at 55. The other interesting thing is that his dad lived until he was 110.
Yeah Lupus triggered later in life has probably other causes that remain unclear
My father’s was probably caused by his vasectomy (well, the reabsorption of sperm afterwards). Any immune response can trigger it.