Clinical feature: 

Definition: Osteoporosis is the loss in bone mineral density that results in a more frequent ocurrence of fractures.

Pathogenesis: Osteoporosis develops when osteoclasic processes dominate over osteoblastic processes. Osteoporosis is a frequent disease thats why the undelying genetic disturbances must be frequent too. A lot of genes involved in bone metabolism are possible candidates responsible for osteoporosis. Association of mutations in some of these genes and osteoporosis has been established but the link between genetic disturbance and real disease is not well clarifyed yet.

Diagnostics: 

Strategy: The current genetic parameters of osteoporosis can only help to estimate the risk but not the cause. Thats why the genetic testing should be considered early in the diagnostic process.

Literature: 

Gómez Alonso C et al. (1998) Vitamin D receptor gene (VDR) polymorphisms: effect on bone mass, bone loss and parathyroid hormone regulation.
Alvarez-Hernández D et al. (2003) Influence of polymorphisms in VDR and COLIA1 genes on the risk of osteoporotic fractures in aged men.
Spotila LD et al. (1991) Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
Brandi ML et al. (2001) Genetic markers of osteoarticular disorders: facts and hopes.
Becherini L et al. (2000) Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women.