29/05/2026
Not all “broken” genes fail the same way. 🧬
Researchers discovered a key boundary in the immune-regulating RELA gene that may help better predict symptoms, severity, and treatment response in patients with autosomal dominant RELA deficiency—a rare inherited inflammatory disorder. More: https://www.hiroshima-u.ac.jp/en/news/97465
Access the study here: https://www.jacionline.org/article/S0091-6749(26)00074-6/fulltext
Scientists identified a key breakpoint in the RELA gene that helps predict how harmful mutations cause a rare inherited inflammatory disease. Mutations in a location before amino acid P290 reduce protein levels, whilst those located after P290 produce disruptive proteins. The finding could improve d...