The 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.)
We know there are many triggers. This is why they call lupus a polygenic Disorder. And it has as many variations of symptoms as it does causes. I mean there’s even drug induced lupus.
In my opinion, on the classification of disorders around symptoms does more harm than good when trying to discover the cause of the disorder.
We need to stop the delay in personalized medicine in order to cure people of these disorders. This is essentially what they did with this patient. They took the time and looked at their genetics, and they found what was wrong.
And once more the mods decided to change the title...They must be experts seconding the Max Plank foundation. I did it once, and was smoked to smithereens by the commenting here... :-)
