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Posted: 2017-08-09 15:47:56

Vitamin B3, found in green vegetables, cereals and in Vegemite, could be a way to prevent some types of birth defects and prevent miscarriages, according to an Australian study

Scientists a Sydney’s Victor Chang Cardiac Research Institute identified a genetic cause of birth defects, and found when vitamin B3 was given to pregnant mice with the defect-causing genes, the mice gave birth to healthy pups.

The researchers identified gene variants in 13 human families and discovered that the genes are responsible for an enzyme which the body usually makes from vitamin B3.

When researchers genetically engineered mice with the same gene variants, they found that pups were born with birth defects, but that this could be prevented by giving the mouse mums vitamin B3 during pregnancy.

The breakthrough, led by Professor Sally Dunwoodie from the Victor Chang Institute, identified a major cause of miscarriages as well as heart, spinal, kidney and cleft palate problems in newborn babies.

“The ramifications are likely to be huge. This has the potential to significantly reduce the number of miscarriages and birth defects around the world, and I do not use those words lightly,” says Professor Dunwoodie.

“Now, after 12 years of research, our team has also discovered that this deficiency can be cured and miscarriages and birth defects prevented by taking a common vitamin.”

At the heart of the paramount discovery is the dietary supplement vitamin B3, also known as niacin. Scientists at the Victor Chang Institute found that simply boosting levels during pregnancy can prevent miscarriages and birth defects.

According to the executive director of the Victor Chang Cardiac Research Institute, Professor Robert Graham, the implications are profound.

“Just like we now use folate to prevent spina bifida, Professor Dunwoodie’s research suggests that it is probably best for women to start taking vitamin B3 very early on, even before they become pregnant. This will change the way pregnant women are cared for around the world,” says Professor Graham.

“We believe that this breakthrough will be one of our country’s greatest medical discoveries. It’s extremely rare to discover the problem and provide a preventive solution at the same time. It’s actually a double breakthrough.”

The results from the study, published in the New England Journal of Medicine, have the scientific world buzzing.

Professor Claire Roberts at the Adelaide Medical School, University of Adelaide, says the researchers identified genetic causes of a rare constellation of malformations at birth called VACTERL.

Affected babies have anomalies in at least three of the spine, anus, heart, windpipe, eosophagus and limbs.

About one in 20,000 babies are affected and some of these babies die. There are about 310,000 babies born in Australia each year.

Professor Roberts says the study does not mean that taking niacin/vitamin B3 in pregnancy prevents birth defects.

“The Australian population is not considered to be deficient in niacin,” she says.

“Most breakfast cereals have niacin added to them, it is also present in meat and whole grain cereals.

“There have been previous publications showing mutations in other genes are also associated with VACTERL and it is likely that different genes contribute to these malformations and that not all babies with VACTERL will have the same mutations.”

David Amor, a clinical geneticist at Royal Children’s Hospital in Melbourne, says the research paper is describing a new genetic condition, but one that is likely to be very rare.

“What is most interesting is that these birth defects are potentially treatable if the mother is given niacin (NAD) supplementation during pregnancy,” he says.

“A broader question is whether dietary niacin deficiency might play a role in birth defects even in the absence of the genetic deficiency of NAD, and whether dietary supplementation of niacin might be of benefit to pregnant women in the general population.

“I should add that the concept of a birth defect that is potentially preventable by diet is very cool, even if it only applies to rare individuals.”

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