Overview
- Researchers used a CRISPR-based framework to switch off genes in human cells and test survival in low or high vitamin B2 or B3, flagging dozens of candidate vitamin-responsive diseases.
- NAXD emerged as the strongest vitamin B3–responsive hit; the gene repairs damaged forms of NAD, and its loss depletes functional NAD and causes severe early-childhood brain disease.
- In a newly generated NAXD mouse model, removing dietary vitamin B3 from pregnant mice caused early embryonic death in NAXD-deficient embryos, while untreated newborns died within days.
- Daily high-dose vitamin B3 given from birth restored brain NAD and serine, prevented neuropathology, normalized growth and behavior, and extended survival more than 40-fold, with treated mice healthy at 300 days when the experiment ended.
- Study authors say NAXD should be added to newborn screening to enable immediate therapy, and they plan to extend the screening approach across additional vitamins and micronutrients.