Niacin, NAD and malformations

It’s rare for a single paper to claim to have not only discovered a new mechanism for disease but also a means of preventing it. A paper from Sydney, Australia, which at first sight appears somewhat obscure and theoretical, does just that (Shi H et al. NEJM 2017. doi: 10.1056/NEJMoa1616361). It combines genetic studies on four families with mouse model experiments, to come up with a hypothesis that many congenital malformations are linked to deficiency of Nicotinamide Adenine Dinucleotide (NAD) in pregnancy. The families, 3 of which were consanguineous, all had children with multiple congenital abnormalities related to the VACTERL sequence. They were found to carry gene variants relating to the HAAO and KYNU enzyme systems, which are concerned with the intracellular synthesis of NAD. In each, the affected child was homozygous for one of these. The children were found to have low circulating levels of NAD. They went further,...

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