Wat dit gen doet
When a white blood cell swallows a bacterium it produces a burst of reactive chemicals to destroy it. NCF1 makes one of the parts of the machine that generates that burst. Without it, the cell can catch germs but not kill them. A two-letter deletion in NCF1 was the first mutation ever corrected in a patient using prime editing.
NCF1, at 7q11.23, encodes p47phox, a cytosolic component of the phagocyte NADPH oxidase complex. A GT dinucleotide deletion is the predominant cause of autosomal recessive p47phox-deficient chronic granulomatous disease. The locus is complicated by highly similar pseudogenes, making specific targeting technically demanding — which makes the PM359 result more notable, not less.
Sources
- New England Journal of Medicine · 2025
Prime Editing for p47phox-Deficient Chronic Granulomatous Disease ↗