Researchers Identify Gene Linked To High Bone Mass.(Brief Article)

2001 NOV 15 - (NewsRx.com & NewsRx.net) -- Building on a proven program of gene discovery, scientists at Genome Therapeutics and Creighton University, Omaha, Nebraska, discovered a novel gene responsible for high bone density.

Osteoporosis, an increasingly prevalent human disease, is characterized by low bone density and structural deterioration of bone tissue. Researchers described the identification of the protein responsible for above average bone mineral density in presentations at the annual meetings of the American Society of Human Genetics (ASHG) and the American Society for Bone and Mineral Research (ASBMR) October 15, 2001.

This gene discovery is the foundation of a multiyear alliance between Genome Therapeutics and Wyeth-Ayerst for genomics-based osteoporosis drug discovery and is expected to be a promising research pathway to novel products for the prevention or treatment of osteoporosis.

Using members of a large extended family, some of whom displayed the high bone mass (HBM) trait, scientists at Creighton and Genome Therapeutics were able to identify a single amino acid change in a protein receptor responsible for above average bone mineral density. Genome Therapeutics used DNA sequencing to identify polymorphisms (specific DNA base pair changes) in the HBM candidate genes. Researchers then determined which of these polymorphisms accompanied the HBM trait. One specific variation was found exclusively in affected individuals from the extended HBM family, but not in the general population.

"Our ability to move from identifying individuals with high bone mass to isolating the genetic change responsible for this trait is a testament to the utility of positional cloning in the quest to understand human diseases," said Robert R. Recker, MD, director of the Creighton Osteoporosis Research Center. "The combination of Creighton's expertise in hereditary analysis, led by Dr. Mark Johnson, and Genome Therapeutics' command of gene identification technologies ...