Shop talk: Sugars, bones, and a disease called multiple hereditary exostoses

Authors

  • Henry H. Roehl,

    Corresponding author
    1. MRC Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield, United Kingdom
    • MRC Centre for Developmental and Biomedical Genetics, Firth Court, Western Bank, University of Sheffield, Sheffield S10 2TN, UK
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  • Maurizio Pacifici

    1. Department of Orthopaedic Surgery, Thomas Jefferson University, School of Medicine, Philadelphia, Pennsylvania
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  • Multiple hereditary exostoses (MHE) is also known a hereditary multiple exostoses, osteochondromatosis, or diaphyseal aclasis, depending primarily upon the geographic location. It was renamed to multiple osteochondroma by the World Health Organisation in 2002; however, the renaming remains controversial, and many researchers as well as patients and their families prefer to use the original designation. This issue was discussed at the Third International MHE Research Conference, but a consensus was unfortunately not reached.

Abstract

On October 29, 2009, researchers and physicians gathered at the Sheraton Four Points Hotel in Boston for 4 days to discuss a disease called multiple hereditary exostoses (MHE). MHE is an autosomal dominant disease that is associated with mutations in two enzymes that are required for heparan sulfate (HS) synthesis. Children with the disease form numerous benign bone tumors (osteochondromas) and have >2% chance of developing chondrosarcoma. The aim of the meeting was to generate new ideas for the diagnoses, treatment, and cure of this disease. Discussions ranged from orthopedic surgical treatment and patients' personal experiences to fundamental questions in skeletal biology and the precise molecular role that HS plays in developmental signaling pathways. Developmental Dynamics 239:1901–1904, 2010. © 2010 Wiley-Liss, Inc.

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