Baby deaths mystery from 1930s solved by researchers finding ‘abnormal’ gene shape

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Baby deaths mystery from 1930s solved; In the 1930s and 1940s, a wave of infant mortality was attribute to vitamin D added to bread, milk and margarine. Most of these children would have had the gene mutation – but not all. Now scientists have discovered why some babies get sick even without the mutation.

Scientists have finally solved an 80-year-old mystery related to child deaths in the 1930s and 1940s.

The deadly ingredient was find in addresses – milk, bread, cereal, margarine.

But it was put there to make children healthier. In the early 1900s, more than 80% of children were affecte. By bone disease, so foods were fortified with vitamin D.

The Barricade Practically Eradicated the disease. However, the procedure had fatal side effects as some children were unable to break down vitamin D properly.

They had a disease that causes calcium to build up in the blood. Leading to kidney damage and kidney stones, which can be fatal in children.

Due to outbreaks of vitamin D poisoning in infants, guns were ban in many European countries in the 1950s.

Research in 2011 revealed. That the condition now called hypocalcemia of infancy type 1, or HCINF1, is cause by gene mutations.

However, the researchers were surprise to find. That about 10% of patients affected by HCINF1 do not have the genetic mutation.

Therefore, many child deaths and symptoms that patients still experience today were unexplain.

But now researchers at the University of East Anglia (UEA) have discovered. What happens to these patients – and it’s not a mutation in their genes, but their shape.

Lead researcher Dr Darrell Green, from UEA Medical School in Norwich. Said most patients who were screened and find to have HCINF1 also had a mutation in the CYP24A1 gene.

Because people don’t have this mutation but still have trouble processing vitamin D. They can still have “adventure problems without a proper diagnosis,” he said.

Patients’ problems may include recurring kidney stones and severe pain.

Shelley O’Connor, 34, from Norwich, was only diagnose with HCINF1 11 years ago. When she became pregnant with her first child aged 23.

When she started taking supplements to help her baby. Which contained vitamin D – she started experiencing severe pain that led midwives to believe she would be in labor at just 23 weeks.

“It was very scary,” he said. “I was really scare for the baby. But when they did an MRI it turn out it was actually a kidney stone cause. By taking a vitamin D pregnancy supplement.”

The “abnormal” shape of genes solves a puzzle

The UEA team collaborated with colleagues at University Hospitals in Norfolk and Norwich. Where they worked with 47 patients like Shelley to find out how people can get the disease without the mutation.

Baby deaths mystery from 1930s solved; A combination of next-generation genomic sequencing and computer modeling was use to study blood samples from 10% of “unsuspecting patients”.

Dr. Green said, “A postdoctoral fellow in my lab, Nicole Ball. Did a more extensive genetic analysis of blood samples from six patients. We found that the physical form of the CYP24A1 gene was abnormal in these apparent HCINF1 patients.

“This suggests that the gene form plays an important role in gene regulation – and this is why some people have been living with HCINF1 but without a definitive diagnosis,” he added.

Dr. Green explained the difference between a genetic mutation and a gene pattern in DNA sequencing and what this means for patients.

On the broader scale of genetics and health, we know that genes must be in the right order to make the right proteins, but on a more complex level, we now know that genes must have the right physical properties. form.”

Scientists now plan to study the role of gene forms in other diseases, such as cancer.

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