Osteopetrosis

Overexpression Of CREB Protein Plays Pivotal Role In Disease Development

Published in Gene Therapy Weekly, November 15th, 2001

Researchers at Children's Research Institute, located on the campus of Columbus (Ohio) Children's Hospital, designed the first-ever transgenic model (genetically modified) to show how the CREB protein (cyclic AMP response element binding protein) leads to the abnormal function of osteoclasts (cells that break down the bone), resulting in osteopetrosis.

Lead researcher Natarajan Muthusamy, DVM, PhD, presented the findings at the American Academy of Pediatrics (AAP) National Conference and Exhibition in San Francisco, California.

"In our study, we have shown that if the mutant CREB protein is over-expressed, the result is osteopetrosis," said...

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Source: Gene Therapy Weekly (2001-11-15)

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