Shop talk: Sugars, bones, and a disease called multiple hereditary exostoses.
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.
Roehl
Henry H
HH
MRC Centre for Developmental and Biomedical Genetics, University of Sheffield, Sheffield, UK. h.roehl@sheffield.ac.uk
Pacifici
Maurizio
M
D001859:Bone Neoplasms / Q000235:genetics / Q000601:surgery; D001842:Bone and Bones / Q000473:pathology*; D001900:Boston; D002241:Carbohydrates / Q000235:genetics; D002648:Child; D002813:Chondrosarcoma / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D006497:Heparan Sulfate / Q000235:genetics; D006801:Humans; D009154:Mutation; D015831:Osteochondroma / Q000235:genetics
D002241:Carbohydrates; D006497:Heparan Sulfate