New study sheds light on mysterious child deaths nearly a century ago—and may help scientists better understand cancer

A move to eradicate rickets by fortifying foods with Vitamin D preceded a wave of mysterious child 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, 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 mystery solved, for the most part. But not everyone who is apparently affected by the condition has the genetic error—about 10% do not.

A new study from researchers in the United Kingdom reveals why: The patients they studied who had the condition, but did not have a mutation in the CYP24A1 gene, had the wrong CYP24A1 gene, to the same effect, according to in an article published on Wednesday by researchers in the United Kingdom in Journal of Bone and Mineral Research.

“This tells us that gene shape is important in gene regulation—and this is why some people live with [the condition] but there is no definite diagnosis,” Dr. Darrell Green, a professor of RNA biology at the University of East Anglia’s Norwich Medical School in the United Kingdom and one of the lead authors of the study, said in a news release about the study.

The discovery has broad applications in the field of genetics and health in general, according to Green. Scientists already know that “genes must have the correct sequence in order to produce the correct protein.”

“But with 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 gene forms influence other diseases, such as cancer.

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