Pain and a rare genetic disorder in Pakistan

BBC News:

Researchers have discovered a gene mutation which prevents otherwise healthy carriers from feeling pain.

The University of Cambridge team made the discovery after studying three related families with a rare genetic disorder in northern Pakistan.

One family member, a 10-year-old boy, worked as a street performer, placing knives through his arms.

Writing in Nature, the researchers said the finding might aid development of more effective pain treatments.

In total, the Cambridge team found six people from the three related families all carried the same mutated gene.

None had experienced pain at any time in their lives.

Detailed neurological examinations revealed that there was no evidence of any sort of disease which could explain this deficit.

And they were able to perceive a number of sensations, such as touch, temperature, tickle and pressure.

All six had sustained a variety of injuries as a result of their inability to sense pain, including damage to their lips and tongue as a result of biting themselves when young.

The researchers pinned down the problem to a mutation in a gene which plays a role in stimulating sensory nerve cells by controlling the movement of sodium through them.

They believe it could be possible to develop new painkilling drugs which target the same process.

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