Bone Abstracts (2015) 4 IS2 | DOI: 10.1530/boneabs.4.IS2

Bone and osteocyte biology: lessons from human genetic diseases

Brendan Lee


Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.


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 to increasingly complex genotype–phenotype correlations that now provide unprecedented insight into the important genetic determinants of bone and osteocyte biology. Increasing locus and allelic heterogeneity in association with phenotypic expansion are now informing new mechanistic hypotheses on how the skeletal progenitor cell commits to the osteoblastic lineage and eventually terminally differentiating into the osteocyte. Not surprisingly, we find that this process integrates differential contribution of classical signaling pathways into a rheostat that is highly context and time dependent. Moreover, autocrine, paracrine, and endocrine signaling further integrates cell–cell communication among all of the components within the bone niche.

Disclosure: Receipt of honoraria/consulting fees: Biomarin.

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