1. 12/30/2018
OSTEOPOROSIS

2. the structure and function
There is
more than one gene
responsible for
the structure and function
of the skeleton
12/30/2018
OSTEOPOROSIS

3. Scientists discovered a novel gene responsible for high bone density
Oct ASBMR news release
Scientists discovered
a novel gene responsible for high bone density
At Creighton, we were fortunate to recognize and recruit this family with high bone mass ….
R. Recker, M.D
12/30/2018
OSTEOPOROSIS

4. A Mutation in the LRP5 Gene Results in the Autosomal Dominant High Bone-Mass Trait
Jan 2002; 70:11-19
12/30/2018
OSTEOPOROSIS

5. Y. Gong et al.
(The Osteoporosis-Pseudoglioma Syndrome
Collaborative Group),
LDL receptor-related protein 5 (LRP5)
affects bone accrual and eye development.
Cell Nov 2001;107:
12/30/2018
OSTEOPOROSIS

6. … the genetic trait that causes higher-than-normal bone density
… maps to the same genomic region that contains LRP5
12/30/2018
OSTEOPOROSIS