Ground breaking Australian research into birth defects has shown that vitamin B3 (niacin) supplementation could lead to a reduction or possibly prevent birth defects.
Published in the New England Journal of Medicine, the study has shown that deficiencies in nicotinamide adenine dinucleotide (NAD), which is associated with organ development in the foetus, can be rectified by oral supplementation of niacin.
Using genomic sequencing to determine potential disease-causing mutations from four families with children presenting with congenital defects, researchers induced these mutations in a mouse model and found that exactly the same birth defects were found in the mice offspring.
After conducting further analyses, the researchers suggested a deficiency in NAD levels was linked to congenital malformation.
“NAD is produced by two pathways: one requires dietary tryptophan, and the other requires dietary niacin,” the researchers reported. “To prove that NAD deficiency was disrupting embryogenesis, pregnant null mice were fed a niacin-free diet as before, and water was supplemented with 10 or 15 mg of nicotinic acid per litre.”
“With 10 mg of nicotinic acid per litre, null embryos were normal except for kidneys that were 30% smaller than those in heterozygous controls; with 15 mg of nicotinic acid per litre, all the embryos were normal.” This finding shows there is a dose response, with the higher dose providing significant protection.
NAD deficiency is linked to disease caused through genetic and environmental means and although severe niacin deficiency is quite rare nowadays, niacin deficiency, caused by dietary inadequacies, malabsorption of nutrients and drug interference is still observed and is common during pregnancy.
“Our findings increase understanding of the genetic and environmental causes of congenital malformation. Our discovery that the genetic disruption of NAD synthesis causes congenital malformations suggests that mutation of many genes might have the same effect,” the authors stated.
The study hypothesises that supplementation with high-dose niacin (140mg/day which is ten times the U.S. recommended daily allowance for women) before and during pregnancy might prevent recurrence of disease in the four families participating in the research. These families are high risk and have a history of congenital malformations and genetic mutations. The researchers also theorise that niacin supplementation may benefit the speech and developmental delays in the surviving patients of the four families.
According to Dr Lesley Braun, Director at Blackmores Institute these findings are very promising, “This is a really exciting discovery, but further research is required before prescribing guidelines can be determined. The researchers, in fact, advise that the next steps are to develop diagnostic testing to measure NAD levels to identify the women who are at greatest risk of having a baby with a birth defect and then ensuring they are getting sufficient vitamin B3.”
The researchers also concluded that cases of congenital malformation occurring due to a deficit of NAD be collectively referred to as congenital NAD deficiency disorders.
Source: N Engl J Med 2017; 377:544-52 DOI:10.1056/NEJMoa1616361