Feeling No Pain: New Form of Rare Gene Disorder Decoded

National Geographic reports of an amazing phenomenon.

"I have super powers," a girl named Megan whispers to her doctor on a recent episode of the TV show Grey's Anatomy.

That's her explanation for how she's able to withstand nasty gashes and being hit with a baseball bat—all without feeling any pain.

Megan actually has a rare genetic disorder that renders her insensitive to pain. And although she is a fictional character, her problem is real.
Across the world about a few hundred people suffer from one of a variety of diseases that make them completely unable to feel pain from the time they're born.
Now a new form of this disorder has been recognized among people from northern Pakistan, and scientists have tracked down the mutated gene responsible for the condition.

Their study, published today in the journal Nature, could help researchers gain a better understanding of how pain works and may help them develop new painkillers with fewer side effects.

Faulty Gene

Among people who are born without pain sensations, the classic case of the disorder is called congenital insensitivity to pain with anhidrosis (lack of sweating).
These patients usually have a variety of physical ailments, including slight mental retardation.

Only a handful of sufferers are like the TV character Megan, without major symptoms beyond a loss of pain.

Researchers discovered the latest version of the disorder when they spotted a young street performer in Pakistan.

"They came across him in the market, sticking daggers through his arms," said John Wood, a professor at University College London in England and a member of the research team.

From talking to the locals the researchers were able to find six other people from three families in the same region who also had the disease.

These people were able to feel hot and cold, sense pressure, and could tell sharp objects touching their skin from blunt ones.

They were all deemed to be of at least average intelligence. But none of them felt any pain.
Surprisingly, the families were unrelated, but all of the afflicted members had mutations to the same gene.

The culprit gene encodes a protein that forms part of a channel that allows electrically charged particles to cross the surface of nerve cells.

"This channel is undoubtedly crucial for human pain perception," Wood said.

The mutation stopped the protein from working, the study showed. This apparently prevented a certain type of nerve cell from passing on signals that tell the brain when something is painful.

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