Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

ABSTRACT:

Background

Primary osteoporosis is a rare childhood-onset skeletal condition whose pathogenesis has been largely unknown. We have previously shown that primary osteoporosis can be caused by heterozygous missense mutations in the Low-density lipoprotein receptor-related protein 5 (LRP5) gene, and the role of LRP5 is further investigated here.

Methods

LRP5 was analyzed in 18 otherwise healthy children and adolescents who had evidence of osteoporosis (manifested as reduced bone mineral density i.e. BMD, recurrent peripheral fractures and/or vertebral compression fractures) but who lacked the clinical features of osteogenesis imperfecta (OI) or other known syndromes linked to low BMD. Also 51 controls were analyzed. Methods used in the genetic analyses included direct sequencing

SUBMITTER: Korvala J 

PROVIDER: S-EPMC3374890 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature