Researchers Finally Solved the Mystery Behind Rare Bone Disease

Melorheostosis is a very rare disease. Only 400 cases were ever registered worldwide, and the research used patients who were not related to each other. However, this condition is very painful, and undulated growth of bones results in restriction of movement.

There were some preconceptions made on this disease as the head of the Clinical and Investigative Orthopedics Surgery Unit at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at NIH, Timothy Bhattacharyya, M.D. explains “Scientists previously assumed that the genetic mutations responsible for melorheostosis occurred in all cells of a person with the disorder”

The researchers took a different approach. They didn’t go with the already existing data. “Our team hypothesized that mutations might only occur in the affected bone tissue,” Timothy said.

In an average human, the bone density and strength decreases with age.  However, people with Melorheostosis will have the condition reversed. As they get old; their bones will become even harder and denser as layers on bone tissue get overplayed on top of one another.

[see-also]

The research saw success when they found out that the uncontrollable growth was a result of the inhibitors getting affected by mutations. To be more precise, the bone growth in humans is a result of the active working of MEK1 protein.

In people affected with Melorheostosis, the MEK1 genes are affected due to the mutations that occur in MAP2K1 genes. These MAP2K1 genes produce MEK1 proteins, so when the genes are mutated, they produce excess MEK1 protein.

This overproduction of protein leads to excessive bone growth in specific areas of the body.

Co-author of the study Joan Marini, Ph.D., M.D., of NICHD, said, “When we started, we had no preconceived causative pathways, but the participation of the patients has really changed the scientific landscape on this topic. Further studies on how this pathway works in both normal and mutant bone cells may have broad implications that could benefit a wider population.”

“This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients but uncovered fundamental information about the role of a cancer-related gene in the metabolic pathways of normal bone.”

With this new finding, doctors, scientist, and researchers covered great lengths in untangling the mysteries of bone healing and bone tissue dynamics.