The study, published in the New
England Journal of Medicine in August
this year, is based on 12 years of
research that began with the seemingly
unrelated goal of seeking “the genetic
cause of cardiac, vertebral,
and renal defects,
among others,
in unrelated
patients.”
The research team had a “Eureka
moment” when it connected
the NAD-related gene mutation to
children with similar combinations of
birth defects.
While the researchers don’t want to
offer false hope to families affected
by miscarriage or birth defects, their
research “provides strong evidence
that vitamin B3 has the potential to
prevent these terrible outcomes in
some cases.” With this in mind, women
are encouraged “to follow the current
recommended dose of vitamin B3
(18mg per day) when preparing for
pregnancy. iii ”
So: how does this study affect the way
dietitians should care for pregnant
women? Infuse spoke with Prof.
Dunwoodie recently to learn just that,
and to gain more background on this
pioneering study.
What was the impetus behind this
study?
We were working to identify the genetic
reason for why babies are born with
birth defects – trying to find the gene
mutation. We found two gene mutations
– HAAO and KYNU – and that pointed us
towards the metabolic pathway
making NAD.
Our whole understanding of the gene