Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells -- By Ropero et al. 13 (22): 2753 ( Human Molecular Genetics)

Hello friends.

This paper deals with Exostoses-1 gene (EXT1), mutations of which lead to Hereditary Multiple Exostoses(HME) syndrome, an autosomal dominant disease affecting the long bones of individuals from childhood to puberty and characterized by the formation of cartilage-capped tumors, known as osteochondromas or exostoses. Individuals with HME have a significantly higher risk than the general population of developing malignancies such as chondrosarcomas and osteosarcomas.

This gene EXT1, is a glycosyltranferase required for the biosynthesis of heparan sulfate glycosaminoglycans (HSGAGs), an important component of connective tissues . The study emphasizes the significance of Impaired Heparan Sulphate production in the biology of malignancy and epigenetic silencing of EXT1 gene as one of its key steps.

I am a medical graduate interested in human cancer research and that is the reason I chose this paper.

ChEeRs,

Suman Kumar