ResearchPUBMEDApr 14
Rare genetic diseases associated with G-quadruplex-induced replication stress.
Scientists have discovered that certain rare genetic diseases are caused by mutations in genes that help cells copy their DNA. These genes normally produce proteins that untangle special twisted DNA structures called G-quadruplexes that get in the way during copying. When these proteins don't work properly, cells can't copy their DNA correctly, leading to problems like weak immune systems, slow growth, birth defects, and increased cancer risk.
WHY IT MATTERSUnderstanding which genes cause these G-quadruplex problems could help doctors diagnose patients with unexplained immunodeficiency, growth delays, or birth defects, and may eventually lead to targeted treatments for these currently untreatable conditions.
ℹ Good to knowRead →