A man experienced a serious car accident but did not suffer any broken bones due to a mutation in the LRP5 gene, which results in unusually strong and dense bones.
In 1994, an X-ray revealed that the man’s bones were abnormally dense, being eight times thicker than normal, a case unlike any previously documented. Doctors referred the patient to Karl Insogna, Director of the Bone Center at Yale University. Professor Insogna conducted further tests but could not determine the cause of the abnormal bone density or any related negative effects.
By 2000, the researcher fortuitously encountered a family in Connecticut with similarly dense bones and unusual square jaws. A member of the family had undergone hip replacement surgery because their bones were too hard, preventing the doctor from installing the screws and prosthesis. After tracing the family’s origins, Professor Insogna realized they were relatives of the man from the 1994 accident.
This discovery led him to initiate research on a special population along the eastern coast of the United States. After analyzing the anomalies, Professor Insogna began focusing on chromosome 11, which is responsible for this high bone density. A different research group at Case Western Reserve University also identified a gene mutation known as LRP5, related to bone density. This was the key to unraveling the mystery of the world’s strongest skeletons.
X-ray image of a person’s arm and hand. (Photo: Uplash).
A research team from the Osteoporosis Research Center at Creighton University in Omaha subsequently discovered a similar mutation in a Nebraska family with 21 members, ranging in age from 3 to 93. None of them had ever suffered a broken bone in their lives.
Shortly after, the LRP5 mutation became significant news in the genetics community. Several studies on the topic were published, and families with the mutation across the United States began reaching out to researchers.
Today, many questions about LRP5 remain unanswered. However, with the advent of gene sequencing technology, scientists hope that the discovery of these extremely dense human skeletons could pave the way for new treatment methods, even approaches to combat conditions like osteoporosis.
“Unlike other bone mutations, this mutation is an advantage in bone formation, rather than inhibiting bone breakdown,” Professor Insogna stated.
