11 Aug 2017

DETECTING THE B3 DEFICIENCY LINKED TO BIRTH DEFECTS: THE DOSAGE THAT MAKES THE DIFFERENCE

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DETECTING THE B3 DEFICIENCY LINKED TO BIRTH DEFECTS: THE DOSAGE THAT MAKES THE DIFFERENCE

Supplementation with 140mg of niacin before and during pregnancy could prevent the development of birth defects in infants; according to new cutting-edge Australian research published on the 10th August 2017in the New England Journal of Medicine.

Major congenital malformations occur in around 2% of human births, and one latest study used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple malformations. Researchers then engineered mouse models with similar variants.

The variants were HAAO, the enzyme which catalyses quinolinic acid and KYNU which converts 3-hydroxykynurenine to 3-hydroxyanthranilic acid. Both are considered to be part of de novo NAD synthesis, converting tryptophan to NAD.

The link was made between these gene variants and subsequent NAD deficiency, and defects affecting vertebral segmentation and the heart, small kidney and cleft palate. NAD is involved in hundreds of reactions in the body from energy metabolism to regulating sirtuin-mediated deacetylation which modulates transcription factors and enzymes that enhance cell survival under stress.

While more clinical trials are needed, authors theorised that supplementing with 140mg of high-dose niacin daily before and during pregnancy could prevent disease recurrence in the families studied. In addition, they concluded that niacin supplementation may benefit speech and developmental delays in the surviving patients they studied.

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