Bone Abstracts

Human skeletal dysplasias consist of over 450 distinct conditions that affect the development and maintenance of bone and cartilage. Broadly they can be characterized by those that affect primarily bone, i.e., the osteodysplasias, vs those that affect cartilage, i.e., the chondrodysplasia. However, the lines dividing these two are increasingly blurred as we recognized them to be a spectrum of osteochondrodysplasias. Importantly, the advent of next generation sequencing has led...

Biographical DetailsDr Brendan Lee is the Robert and Janice McNair Endowed Chair in Molecular and Human Genetics, Professor and Interim Chairman of the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr B Lee co-directs the joint MD Anderson Cancer Center and Baylor College of Medicine Rolanette and Berdon Lawrence Bone Disease Program of Texas, and the Baylor Co...

Background: Bone accrual during adolescence is the main contributor to peak bone mass. Bone remodeling is a balance between bone formation and resorption as directed by osteoblast and osteoclast activity, respectively. nitric oxide (NO) is a potent regulator of bone remodeling via mediating effects of cytokines, estrogen and mechanical strain. NO is synthesized from the conversion of L-arginine to L-citrulline by the enzyme nitric oxide synthase (...

The role of the WNT pathway in skeletal maintenance has been extensively studied since the identification of mutations in key signaling WNT mediators (LRP5 and sclerostin) in high and low bone mass phenotypes. However, the identity of the key WNT ligand that signals via LRP5/6 has remained unknown. We aimed to identify genes with a major effect on the skeleton by studying individuals and families with early-onset osteoporosis or osteogenesis imperfecta (OI).<p class="abste...