Interesting story on NPR. Thought I'd heard of this before, but it seems as if this is a new discovery.
click on link to listen to story
http://www.npr.org/templates/story/stor ... Id=6620733
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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.
Newly Found Gene Mutation Banishes Pain
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Christopher
- Posts: 845
- Joined: Wed Jun 18, 2003 10:09 pm
- Injury Description, Date, extent, surgical intervention etc: Date of Injury: 12/15/02
Level of Injury:
-dominant side C5, C6, & C7 avulsed. C8 & T1 stretched & crushed
BPI Related Surgeries:
-2 Intercostal nerves grafted to Biceps muscle,
-Free-Gracilis muscle transfer to Biceps Region innervated with 2 Intercostal nerves grafts.
-2 Sural nerves harvested from both Calves for nerve grafting.
-Partial Ulnar nerve grafted to Long Triceps.
-Uninjured C7 Hemi-Contralateral cross-over to Deltoid muscle.
-Wrist flexor tendon transfer to middle, ring, & pinky finger extensors.
Surgical medical facility:
Brachial Plexus Clinic at The Mayo Clinic, Rochester MN
(all surgeries successful)
"Do what you can, with what you have, where you are."
~Theodore Roosevelt - Location: Los Angeles, California USA
-
Christopher
- Posts: 845
- Joined: Wed Jun 18, 2003 10:09 pm
- Injury Description, Date, extent, surgical intervention etc: Date of Injury: 12/15/02
Level of Injury:
-dominant side C5, C6, & C7 avulsed. C8 & T1 stretched & crushed
BPI Related Surgeries:
-2 Intercostal nerves grafted to Biceps muscle,
-Free-Gracilis muscle transfer to Biceps Region innervated with 2 Intercostal nerves grafts.
-2 Sural nerves harvested from both Calves for nerve grafting.
-Partial Ulnar nerve grafted to Long Triceps.
-Uninjured C7 Hemi-Contralateral cross-over to Deltoid muscle.
-Wrist flexor tendon transfer to middle, ring, & pinky finger extensors.
Surgical medical facility:
Brachial Plexus Clinic at The Mayo Clinic, Rochester MN
(all surgeries successful)
"Do what you can, with what you have, where you are."
~Theodore Roosevelt - Location: Los Angeles, California USA
Re: Newly Found Gene Mutation Banishes Pain
Same story different source...
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http://www.nytimes.com/2006/12/14/healt ... ef=science
New York Times
Gene That Governs Pain Perception Is Found
By NICHOLAS WADE
Published: December 14, 2006
Geneticists following up the case of a 10-year-old Pakistani boy who could walk on coals without discomfort have discovered a gene that is central to the perception of pain.
A mutation in the gene knocks out all perception of injury, raising hopes of developing novel drugs that would abolish pain by blocking the gene’s function.
The boy lived in Lahore and was well known to the city’s medical authorities because he would come to the clinic asking to be patched up after his street performances. To earn money he would pass knives through his arms and walk on burning coals without feeling pain.
A research team led by C. Geoffrey Woods, a physician at the Cambridge Institute for Medical Research in Cambridge, England, reports in today’s Nature that they have identified a genetic defect in some of the boy’s relatives who are also unable to feel pain. The defect inactivates a gene that is critical to the body’s perception of pain. The gene presents an attractive target for drug developers seeking to eliminate pain.
Dr. Allan Basbaum, an expert on pain at the University of California, San Francisco, said the finding was “a very exciting story,” providing strong proof of the principle that inhibition of the gene “can result in powerful pain control with minimal side effects.”
But if drugs can be developed, Dr. Basbaum said, they should not eliminate pain altogether because of its protective effects.
Dr. Woods, who has patients among the Pakistani emigrant community in Britain, said yesterday that he was told of the boy in one of his periodic visits to Pakistan. He decided to examine him on a later visit, he said, but learned that the boy had died after jumping off the roof of a house to impress his friends.
Dr. Woods then looked to see if there were any other pain-free individuals in the Qureshi clan to which the boy belonged. The clans, now Muslim, are historical remnants of the Hindu caste system, and the people in a clan are often closely related.
After much effort, Dr. Woods and colleagues in Pakistan and Britain eventually found three Qureshi families among whom six members reported that they had never experienced pain in any part of their body.
“None knew what pain felt like, although the older individuals realized what actions should elicit pain,” the researchers write. Children who do not feel pain soon realize they are regarded as peculiar and learn to simulate it when it would be expected, like after tackles on the football field, Dr. Woods said.
After six years of work, Dr. Woods found that the affected members of all three families had a defect in a gene known as sodium channel N9A, or SCN9A, one of a family of 11 human genes whose protein products govern the initiation of signals that nerves send in the body. They open channels that let sodium ions rush across a nerve cell’s membrane.
The SCN9A gene is active both in nerves that mediate pain and in those of the sympathetic nervous system, which controls vital bodily functions like heart rate. But for reasons that are not yet understood, the affected members of the Pakistani families had no symptoms of a disordered sympathetic nervous system, like irregular heart rate, and seemed entirely normal apart from the occasional self-inflicted damage caused by their inability to feel pain. Several had inadvertently bitten off the tips of their tongues in infancy.
Dr. Woods’s discovery “is an important part of a fascinating story,” said Dr. Stephen G. Waxman, a neurologist at Yale University who studies erythromelalgia, a disease in which patients feel an intense burning sensation after exposure to mild warmth. This disease is also caused by mutations in the SCN9A gene, but ones that enhance the gene’s activity instead of blocking it.
Drug developers might find the gene particularly interesting because the defective form in the Pakistani patients seems to have no side effects, even in the sympathetic nervous system where they would be expected, Dr. Waxman said. “But having a target doesn’t guarantee that drugs can be developed,” he said.
Dr. Woods said he believed that the Qureshi boy in Lahore whose exploits stimulated his research would have had a defective SCN9A gene. The boy’s mother had one defective copy of the gene, as presumably did his father, a first cousin of the mother, who died of a heart attack before he could be examined. Two copies of the defective gene must be inherited for a person to lack the sensation of pain.
Because many genes and nerves are involved in mediating pain, it is surprising that a mutation in a single gene could inactivate the whole system. The reason, Dr. Woods said, is probably that a common mechanism is involved in all feelings of pain.
Nerve fibers have different proteins embedded in their endings, each of which is sensitive to a different kind of injury. These sensor proteins act by letting a few sodium ions flow into the nerve, though not enough to set off a pain signal. The proteins made by the SCN9A gene amplify the initial activity by letting a much larger number of sodium ions flow in, initiating an electrical signal that is interpreted as painful when it reaches the brain.
Presumably because all pain fibers depend on the SCN9A gene’s protein for amplification, all signals of pain are muted when the gene is inactive, Dr. Woods said.
----------------------------------------
http://www.nytimes.com/2006/12/14/healt ... ef=science
New York Times
Gene That Governs Pain Perception Is Found
By NICHOLAS WADE
Published: December 14, 2006
Geneticists following up the case of a 10-year-old Pakistani boy who could walk on coals without discomfort have discovered a gene that is central to the perception of pain.
A mutation in the gene knocks out all perception of injury, raising hopes of developing novel drugs that would abolish pain by blocking the gene’s function.
The boy lived in Lahore and was well known to the city’s medical authorities because he would come to the clinic asking to be patched up after his street performances. To earn money he would pass knives through his arms and walk on burning coals without feeling pain.
A research team led by C. Geoffrey Woods, a physician at the Cambridge Institute for Medical Research in Cambridge, England, reports in today’s Nature that they have identified a genetic defect in some of the boy’s relatives who are also unable to feel pain. The defect inactivates a gene that is critical to the body’s perception of pain. The gene presents an attractive target for drug developers seeking to eliminate pain.
Dr. Allan Basbaum, an expert on pain at the University of California, San Francisco, said the finding was “a very exciting story,” providing strong proof of the principle that inhibition of the gene “can result in powerful pain control with minimal side effects.”
But if drugs can be developed, Dr. Basbaum said, they should not eliminate pain altogether because of its protective effects.
Dr. Woods, who has patients among the Pakistani emigrant community in Britain, said yesterday that he was told of the boy in one of his periodic visits to Pakistan. He decided to examine him on a later visit, he said, but learned that the boy had died after jumping off the roof of a house to impress his friends.
Dr. Woods then looked to see if there were any other pain-free individuals in the Qureshi clan to which the boy belonged. The clans, now Muslim, are historical remnants of the Hindu caste system, and the people in a clan are often closely related.
After much effort, Dr. Woods and colleagues in Pakistan and Britain eventually found three Qureshi families among whom six members reported that they had never experienced pain in any part of their body.
“None knew what pain felt like, although the older individuals realized what actions should elicit pain,” the researchers write. Children who do not feel pain soon realize they are regarded as peculiar and learn to simulate it when it would be expected, like after tackles on the football field, Dr. Woods said.
After six years of work, Dr. Woods found that the affected members of all three families had a defect in a gene known as sodium channel N9A, or SCN9A, one of a family of 11 human genes whose protein products govern the initiation of signals that nerves send in the body. They open channels that let sodium ions rush across a nerve cell’s membrane.
The SCN9A gene is active both in nerves that mediate pain and in those of the sympathetic nervous system, which controls vital bodily functions like heart rate. But for reasons that are not yet understood, the affected members of the Pakistani families had no symptoms of a disordered sympathetic nervous system, like irregular heart rate, and seemed entirely normal apart from the occasional self-inflicted damage caused by their inability to feel pain. Several had inadvertently bitten off the tips of their tongues in infancy.
Dr. Woods’s discovery “is an important part of a fascinating story,” said Dr. Stephen G. Waxman, a neurologist at Yale University who studies erythromelalgia, a disease in which patients feel an intense burning sensation after exposure to mild warmth. This disease is also caused by mutations in the SCN9A gene, but ones that enhance the gene’s activity instead of blocking it.
Drug developers might find the gene particularly interesting because the defective form in the Pakistani patients seems to have no side effects, even in the sympathetic nervous system where they would be expected, Dr. Waxman said. “But having a target doesn’t guarantee that drugs can be developed,” he said.
Dr. Woods said he believed that the Qureshi boy in Lahore whose exploits stimulated his research would have had a defective SCN9A gene. The boy’s mother had one defective copy of the gene, as presumably did his father, a first cousin of the mother, who died of a heart attack before he could be examined. Two copies of the defective gene must be inherited for a person to lack the sensation of pain.
Because many genes and nerves are involved in mediating pain, it is surprising that a mutation in a single gene could inactivate the whole system. The reason, Dr. Woods said, is probably that a common mechanism is involved in all feelings of pain.
Nerve fibers have different proteins embedded in their endings, each of which is sensitive to a different kind of injury. These sensor proteins act by letting a few sodium ions flow into the nerve, though not enough to set off a pain signal. The proteins made by the SCN9A gene amplify the initial activity by letting a much larger number of sodium ions flow in, initiating an electrical signal that is interpreted as painful when it reaches the brain.
Presumably because all pain fibers depend on the SCN9A gene’s protein for amplification, all signals of pain are muted when the gene is inactive, Dr. Woods said.