Vitamin B3 Discovery ‘to Save Millions From Birth Defects’

Australia’s biggest medical breakthrough in a generation could save millions of families around the world from the anguish- of losing children in the womb, or soon after birth.

Millions more could be spared the trauma of watching their newborns undergo open heart surgery, or the constant fear that congenital birth defects could kill their adult children.

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A Sydney-led research team says it has shown that supple-mentation with a well-known -vitamin, niacin or vitamin B3, can prevent many of the life-threatening birth defects and miscar-riag-es thought to afflict 12,000 Australian families every year, and 10 million around the globe.

It says the discovery could be “more wide-reaching” than the 1991 finding that folic acid can prevent spina bifida — a realisation that triggered a 70 per cent reduction in babies born with the condition, after pregnant women began routinely taking folate supplements.

The findings were published yesterday in the New England Journal of Medicine, considered the world’s top medical journal, following 12 years of research based on cutting-edge genomics and genetic editing techniques.

The scientists believe many birth deformities are caused by low levels of a key enzyme — nico-tinamide adenine dinucleotide, or NAD — in pregnant women. Their research found mutations in two key genes disrupted the body’s production of NAD, crucial for DNA repair and cellular energy generation.

The team engineered mice with the same mutations, and found their offspring miscarried or had serious birth defects-. After the rodents were given niacin, their offspring were born healthy.

“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,” said lead researcher Sally Dunwoodie, of the Victor Chang Cardiac -Research Institute.

Experts have poured cold water on the claims, saying the mutations are rare and animal studies do not guarantee success in people. Professor Dunwoodie said she was “very confident” the findings would translate to human-s.

She said the research centred on a “metabolic pathway” that had existed for hundreds of millions of years and could be found in creatures as primitive as yeast.

Adelaide University paediatrician Claire Roberts said niacin was already added to breakfast cereals, and was present in meat and cereals. “The Australian popul-ation is not considered deficient in niacin,” she said.

While dietary guidelines urge pregnant women to consume at least 18mg of niacin a day, there is no specific recommendation for supplementation with vitamins other than folic acid. However, the institute cited research findings that at least a third of pregnant women had low levels of niacin during their first trimester — the critical period for foetal organ development — even if they took supplements.

“We’re all different,” Profes-sor Dunwoodie said. “We can all be taking multivitamins but we may have an NAD deficiency.”

She said the team was preparing population-based studies to work out exactly how much niacin pregnant women should take.

Sydneysider Mandy McGowan’s first child Eadie, 19 months, arrived without mishap, even though her husband Rob was born with a hole in his heart.

Now pregnant with her second child, Ms McGowan is hoping for good fortune again. “You’re never sure what’s going to happen,” she said. “To take an extra vitamin isn’t a big deal.”

Samantha Stasinowsky found out her unborn daughter had multiple congenital heart defects during an ultrasound to determine the baby’s gender. Sophie needed surgery immediately after she was born, and two more operations within three weeks.

Now a bubbly 18-month-old, she bears no signs of the trauma, but more surgery looms, and Ms Stasinowsky lives with constant fear. “To be able to take away that heartache, and to have the best possible future for your children’s health — that’s a pretty big gift they would be giving,” she said.