Rare Stone Man Syndrome That Turns Muscle To Bone Could Be Cured As Researchers Discover The Science Behind The Condition


A new study has revealed the science behind why people with a devastating condition called Stone Man Syndrome, also known as fibrodysplasia ossificans progressiva (FOP), see their muscle turn to bone.

A team led by Aris Economides, a geneticist from New York, found the painful transformation happens when a defective gene causes parts of the cell membrane to act abnormally and stimulate unnecessary bone growth.

The disease reportedly affects two million people worldwide and because it can turn tissue and ligaments anywhere in the body into bone, simple tasks such as eating and breathing become extremely difficult.

A paper published in Science Translational Medicine, Economides explained the key to stopping this condition from progressing lies with a type of protein known as a monoclonal antibody.

According to Science, this molecule works to stop certain interactions that takes place at the cell's membrane.

Our cells are typically programmed to carry out their normal functions using receptors that respond to certain signals sent out by specific molecules in the body. And typically, once this pairing takes place, our bodies simply get on with the various reactions needed to keep us alive.

A very crude analogy would be your boss texting you sensitive information in order to help your log in to certain office systems.

However, in the case of Stone Man Syndrome, a faulty gene results in one of these receptors having an abnormality. And Economides found that once a signalling molecule known as activin A comes into contact with this receptor, bone growth goes out of control.

Think of what would happen if your boss' text went to the wrong receiver -- or a "faulty one."

As with all research, the cure has only been tested on mice. However, it is still the closest we have come to a cure.

It spells hope for sufferers who can't afford to take mundane things like walking in the park for granted as even the smallest trip can cause unneeded bone to form.

23-year-old Whitney Weldon was diagnosed with Stone Man Syndrome at the age of nine. Speaking to the Daily Mail last month she said:

"I stay positive and don't think about my body turning to stone.

'I still go out with friends and I still drink. I just have to be careful to not injure myself because that causes it to happen quicker."

Economides agrees with her. He told Science: "The minute you experience it it’s impossible to step back and forget it."

"It's devastating in the most profound way," he added.

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