A Spanish Teen’s Genome May Hold the Secret to Lupus
upstart writes:
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., Canete, Pablo F., Wang, Hao, et al. TLR7 gain-of-function genetic variation causes human lupus [open], Nature (DOI: 10.1038/s41586-022-04642-z)
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