Research & Technology

Spectrum Health researcher’s work on Vitamin B3 study featured in New England Journal of Medicine

Grand Rapids, Mich., Aug. 29, 2017– Paul Mark, MD, division chief of Spectrum Health Medical Group Medical Genetics, is among the researchers published in The New England Journal of Medicine regarding a ground-breaking study on the possible effects of vitamin B3, also known as niacin, on miscarriages and complex birth defects.

More than two dozen researchers contributed to the study, which originated at the Victor Chang Cardiac Research Institute in Sydney, Australia. The resulting article, “NAD Deficiency, Congenital Malformations, and Niacin Supplementation,” appeared in The New England Journal of Medicine on Aug. 10, 2017 and has since been cited in other reputable publications.

After determining through genomic testing that four children with similar and serious birth defects all had low levels of the NAD (nicotinamide adenine dinucleotide) enzyme due to genetic defects in the NAD+ Synthesis Pathway, researchers engineered mouse models with similarly low levels of the molecule and discovered that the mice also had similar birth defects. When the embryos were supplemented with niacin during gestation, NAD levels increased and the defects were not present.

“Next, we would like to evaluate the NAD levels in a larger number of children,” Dr. Mark said. NAD levels have been studied in adults while researching the aging process, but the levels have never before been studied in children.

Dr. Mark is the third Spectrum Health professional to be published this year in the peer-reviewed New England Journal of Medicine. His work, and the work of others, provides the research community with the opportunity to advance the practice of medicine, although any specific changes could be several years away.

 

 

 

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