Oct 26, 1999

New perspectives on the molecular basis of hereditary bone tumours

Molecular Medicine Today
C McCormickF Tufaro


Bone development is a highly regulated process sensitive to a wide variety of hormones, inflammatory mediators and growth factors. One of the most common hereditary skeletal dysplasias, hereditary multiple exostoses (HME), is an autosomal dominant disorder characterized by skeletal malformations that manifest as bony, benign tumours near the end of long bones. HME is usually caused by defects in either one of two genes, EXT1 and EXT2, which encode enzymes that catalyse the biosynthesis of heparan sulphate, an important component of the extracellular matrix. Thus, HME-linked bone tumours, like many other skeletal dysplasias, probably result from disruptions in cell surface architecture. However, despite the recent success in unravelling functions for several members of the EXT gene family, significant challenges remain before this knowledge can be used to develop new approaches for the diagnosis and treatment of disease.

  • References31
  • Citations24
  • References31
  • Citations24


Mentioned in this Paper

Bone Development
Hedgehog Proteins
Enzymes, antithrombotic
Metastasis Suppressor Genes
Hereditary Multiple Exostoses
Cataract, Autosomal Dominant
Parathyroid hormone-related protein
Malignant Bone Neoplasm
Extracellular Matrix

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