>From Nat'l Public Radio.
Research News
Newly Found Gene Mutation Banishes Pain
by Richard Knox
All Things Considered, December 13, 2006 · A Pakistani teenager who
entertained street crowds by walking on hot coals and sticking knives
through his arms has led scientists to find a genetic defect that
renders its carriers unable to feel pain.
Scientists at the University of Cambridge in England pinpointed the
cause: a defect in a gene that codes for a protein on the surface of
pain-sensing nerve cells.
They found mutations in a gene for a particular protein called the 1.7
sodium channel. This is a sort of gate that opens and shuts on the
surface of the nerve cells. When the gate opens, sodium ions flood into
the cell, causing it to fire. In children with the defect, the gate is
welded shut. So their pain nerves cannot fire.
A report in the journal Nature details six individuals with the
mutation in three related families. They feel no pain, but are
apparently normal in every other way, sensing both touch and
temperature.
Pain experts think that if they can find a drug to block the same
protein that is disabled in the Pakistani children, it could be the
safest and most effective painkiller ever devised.
For now, doctors marvel at the idea there are some people who never
know what it's like to hurt. But those with the mutation also can't
tell when they break a bone or suffer a cut. As young children, they
sometimes injure themselves without knowing. But they eventually learn
to compensate.
But pain teaches crucial lessons about danger -- and people with the
pain-blocking gene may not learn those lessons. The Pakistani street
performer who led to to the discovery died before his 14th birthday,
after falling from a roof.