A new study suggests that certain genetic diseases may be treatable with carefully matched vitamins, including a deadly childhood disorder that responded strikingly to vitamin B3.
Scientists at Gladstone Institutes have taken an unusual route in the search for treatments for deadly genetic diseases. Rather than choosing a disease first and then looking for a therapy, they started with vitamins and used a systematic approach to find genetic disorders that might respond to large doses of specific supplements.
With this strategy, the researchers found that vitamin B3 supplementation successfully treated NAXD deficiency in mice. The rare genetic disorder is devastating in children, who usually die within the first few months of life. In a new mouse model of the disease, vitamin B3 therapy extended survival by more than 40 times and removed signs of the condition.
The work also pointed to dozens of additional genetic diseases that may be treatable with vitamin B2 or B3. If confirmed, the findings could create new paths for treating rare diseases with therapies that are relatively safe, inexpensive, and widely available.
Reviving Vitamin Research
In the early 20th century, scientists showed that vitamin deficiencies caused diseases such as scurvy and beriberi, and that specific vitamins could cure them. That work led to several Nobel Prizes. In recent decades, however, the easy availability and low cost of supplements have also encouraged broad, untargeted use, with many people taking vitamins without clear evidence that they need them.
Jain, who is also a core investigator at Arc Institute and an associate professor at UC, thinks targeted vitamin treatments still hold major unexplored promise. In October, she won a prestigious NIH Transformative Research Award to support her effort to bring modern tools back to the study of vitamin biology.
