Learning the Language of Bones
Jan. 9, 2002 -- POH -- progressive osseous heteroplasia -- is a very rare disease. Children who have it are horribly deformed: Bone fragments grow in their skin, muscles, and internal organs.
How this could happen has long been a mystery. One clue is that the disease runs in families. A new study of 18 families affected by POH has shown how a genetic defect causes the disease. The finding may one day lead to a treatment for these children. Surprisingly, it may also lead to a new generation of treatments for osteoporosis and bone fractures.
"POH is a disease in which a mutant gene is causing bone to form in the wrong place," study leader Eileen M. Shore, PhD, tells WebMD. "It is hoped that this will be used to learn how to treat osteoporosis and other bone diseases. In POH we want to learn how to turn this gene off. In osteoporosis we want to learn how to turn it on."
The cells of the human body communicate with each other using complex chemical systems. It's like the body is constantly singing a song to itself -- a song in which each note and lyric carries a message. Modern science is trying to learn this language.
Shore, a molecular geneticist at the University of Pennsylvania, and co-workers are studying the language of bones. They can't speak it yet. But now they've learned a few very interesting words. When they can speak sentences they will try telling cells when -- and when not -- to make new bone.
Another member of the research team is endocrinologist Michael A. Levine, MD, director of the division of pediatric endocrinology and of the bone and mineral center at Baltimore's Johns Hopkins University.
"I think this study has profound implications for the development of therapies to increase bone mass," Levine tells WebMD. "The notion here is that the closer we get to understanding the basis for bone formation, the better will be our ability to develop new treatments."
Osteoporosis isn't the only thing that these new treatments would help.
"Today we would have to use a transplant of bone chips for a non-healing bone fracture," Levine says. "And there are patients with bone defects where the current treatment would use bone transplants. If we can develop better molecular therapies, we will be able to avoid these kinds of transplant."
Learning the Language of Bones
Jan. 9, 2002 -- POH -- progressive osseous heteroplasia -- is a very rare disease. Children who have it are horribly deformed: Bone fragments grow in their skin, muscles, and internal organs.
How this could happen has long been a mystery. One clue is that the disease runs in families. A new study of 18 families affected by POH has shown how a genetic defect causes the disease. The finding may one day lead to a treatment for these children. Surprisingly, it may also lead to a new generation of treatments for osteoporosis and bone fractures.
"POH is a disease in which a mutant gene is causing bone to form in the wrong place," study leader Eileen M. Shore, PhD, tells WebMD. "It is hoped that this will be used to learn how to treat osteoporosis and other bone diseases. In POH we want to learn how to turn this gene off. In osteoporosis we want to learn how to turn it on."
The cells of the human body communicate with each other using complex chemical systems. It's like the body is constantly singing a song to itself -- a song in which each note and lyric carries a message. Modern science is trying to learn this language.
Shore, a molecular geneticist at the University of Pennsylvania, and co-workers are studying the language of bones. They can't speak it yet. But now they've learned a few very interesting words. When they can speak sentences they will try telling cells when -- and when not -- to make new bone.
Another member of the research team is endocrinologist Michael A. Levine, MD, director of the division of pediatric endocrinology and of the bone and mineral center at Baltimore's Johns Hopkins University.
"I think this study has profound implications for the development of therapies to increase bone mass," Levine tells WebMD. "The notion here is that the closer we get to understanding the basis for bone formation, the better will be our ability to develop new treatments."
Osteoporosis isn't the only thing that these new treatments would help.
"Today we would have to use a transplant of bone chips for a non-healing bone fracture," Levine says. "And there are patients with bone defects where the current treatment would use bone transplants. If we can develop better molecular therapies, we will be able to avoid these kinds of transplant."