(ORDO NEWS) — In 1994, the man was in a serious car accident, as a result of which his bones must have definitely suffered. But he had no fractures at all, because he had very dense and strong bones.
When doctors examined x-rays of a man who had been in a car accident (his name was not released to the public), they not only noticed no fractures, but also that his bones seemed unusually dense, about 8 times denser than normal.
It was incredible, so the doctors sent the man to the director of the Yale Bone Center, Carl Insonya.
The scientist ran additional tests, but finding no reason for this unusual bone density or any negative consequences associated with it, he sent the man on his way.
As fate would have it, a few years later, the researcher encountered people with the same dense bones, who turned out to be distant relatives of the unusual person whom he had previously investigated.
Around 2000, Carl Insogna came across a family from Connecticut who had very dense bones and unusually square jaws, but otherwise normal skeletons.
One of the family members, himself a doctor, had several hip replacement surgeries because his bones were so strong that doctors couldn’t screw a prosthesis into them.
Insogna remembered an amazing man he met in 1994 and, after tracing the family’s lineage, determined that they and the car crash survivor of years past could be traced back to an extensive kin group on the east coast.
After analyzing their unusual traits, Carl Insogna began to focus on the region of chromosome 11 that appears to be responsible for their incredibly dense bones.
He wasn’t the only one. A team at Case Western Reserve University found a gene mutation called LRP5 that they linked to bone density, and that turned out to be the key.
Then a team from the Osteoporosis Research Center at Creighton University in Omaha found the exact same mutation in a Nebraska family of 21 members, ages 3 to 93, who never suffered a broken bone in their entire lives.
Soon, the LRP5 mutation became big news among geneticists. Several studies have been published on the subject, and families with the potential mutation from all over the US have contacted the researchers. All of them seemed to have some variant of the LRP5 mutation.
Today, many questions about the LRP5 mutation remain unanswered, but with the advent of genome sequencing technology, scientists hope that the discovery of incredibly dense human bones could lead to new treatments or even cures for debilitating conditions like osteoporosis.
“Unlike other bone mass mutations, this is an increase in bone formation, not an inhibition of bone destruction,” Prof. Insogna says.
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