The move to eradicate rickets by fortifying food with Vitamin D preceded a wave of mysterious infant deaths in the 1930s and 1940s.
Now scientists have a better answer as to why.
A partial answer came in 2011, when researchers discovered a condition called infantile hypercalcemia type 1, which is caused by a mutation in the CYP24A1 gene. The condition, which occurs when the body cannot metabolize Vitamin D properly, causes calcium to build up in the blood, leading to kidney stones, kidney damage, and possibly death.
The discovery solves the mystery, for the most part. But not all people affected by the condition have the genetic fault – about 10% do not.
A new study by researchers in England revealed why: The same patients they studied who had the condition, but who did not have the CYP24A1 gene mutation, had the wrong CYP24A1 gene, with the same effect, according to an article published Wednesday. by British researchers in Journal of Bone and Mineral Research.
“This tells us that gene shape is important in gene regulation—and that’s the reason why some people live [the condition] but without a definitive diagnosis,” Dr. Darrell Green, lecturer in RNA biology at the University of East Anglia’s Norwich Medical School in England and one of the main authors of the study, said in a news release about the study.
The discovery has many applications in the field of genetics and health in general, according to Green. Scientists have learned that “genes must be in the correct sequence to produce the correct protein.”
“But in an added layer of complexity, we now know that genes must also have the correct physical form,” he said.
The researchers now plan to study how the gene’s shape can affect other disorders, such as cancer.
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