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http://www.clickondetroit.com/health/3452790/detail.html
Super-Strong Toddler Studied For Muscle-Wasting Cure
Genetic Mutation Gives German Child Huge Muscles
POSTED: 5:20 pm EDT June 23, 2004
DNA tests conducted on a German toddler with bulging arm and leg muscles have allowed scientists to narrow their search for cures for muscle-wasting diseases.
Dr. Markus Schuelke, a German neurologist, and an international research team found that the child's extra-large muscles are due to an inherited mutation that blocks the myostatin protein, which limits muscle production. The findings are published in Thursday's issue of the New England Journal of Medicine.
An unusual opportunity to examine myostatin's role in humans arose when Schuelke examined a newborn baby boy almost five years ago and was struck by the visible muscles on the infant's upper legs and upper arms. Ultrasound proved that the muscles were roughly twice as large as other infants', but otherwise normal.
Sequencing the myostatin gene from the boy and his mother, who had been a professional athlete, revealed a single change in the building blocks of the gene's DNA.
"Both copies of the child's myostatin gene have this mutation, so little if any of the myostatin protein is made," Schuelke said. "As a result, he has about twice the muscle mass of other children."
So far, the boy has no problems with his heart, Schuelke said. But he added that it's impossible to know whether the lack of myostatin might lead to heart trouble as the boy gets older.
Dr. Se-Jin Lee, one of the study's researchers from Johns Hopkins University in Baltimore, said the discovery demonstrates what he and his team learned when they developed muscle-bound mice: Blocking production of myostatin will let muscle grow.
"This is the first evidence that myostatin regulates muscle mass in people as it does in other animals," Lee said. "That gives us a great deal of hope that agents already known to block myostatin activity in mice may be able to increase muscle mass in humans, too."
Researchers said the findings means trial therapies should be done for people with muscular dystrophy. There is now no cure for muscular dystrophy, the world's most common genetic disease. Few treatments slow its progression, and they have serious side effects.
Study Excerpt
http://content.nejm.org/cgi/content/short/350/26/2682
http://www.clickondetroit.com/health/3452790/detail.html
Super-Strong Toddler Studied For Muscle-Wasting Cure
Genetic Mutation Gives German Child Huge Muscles
POSTED: 5:20 pm EDT June 23, 2004
DNA tests conducted on a German toddler with bulging arm and leg muscles have allowed scientists to narrow their search for cures for muscle-wasting diseases.
Dr. Markus Schuelke, a German neurologist, and an international research team found that the child's extra-large muscles are due to an inherited mutation that blocks the myostatin protein, which limits muscle production. The findings are published in Thursday's issue of the New England Journal of Medicine.
An unusual opportunity to examine myostatin's role in humans arose when Schuelke examined a newborn baby boy almost five years ago and was struck by the visible muscles on the infant's upper legs and upper arms. Ultrasound proved that the muscles were roughly twice as large as other infants', but otherwise normal.
Sequencing the myostatin gene from the boy and his mother, who had been a professional athlete, revealed a single change in the building blocks of the gene's DNA.
"Both copies of the child's myostatin gene have this mutation, so little if any of the myostatin protein is made," Schuelke said. "As a result, he has about twice the muscle mass of other children."
So far, the boy has no problems with his heart, Schuelke said. But he added that it's impossible to know whether the lack of myostatin might lead to heart trouble as the boy gets older.
Dr. Se-Jin Lee, one of the study's researchers from Johns Hopkins University in Baltimore, said the discovery demonstrates what he and his team learned when they developed muscle-bound mice: Blocking production of myostatin will let muscle grow.
"This is the first evidence that myostatin regulates muscle mass in people as it does in other animals," Lee said. "That gives us a great deal of hope that agents already known to block myostatin activity in mice may be able to increase muscle mass in humans, too."
Researchers said the findings means trial therapies should be done for people with muscular dystrophy. There is now no cure for muscular dystrophy, the world's most common genetic disease. Few treatments slow its progression, and they have serious side effects.
Study Excerpt
http://content.nejm.org/cgi/content/short/350/26/2682
