The Lubkin Fund for MHE Research
Current Research

There are currently several labs around the world that are studying the EXT1 and EXT2 genes. Mouse, zebrafish, and fruitfly models that mimic the many mutations in the EXT genes have been established. In developing these lines of mutations in both mammalian and non-mammaliam species, researchers are able to study the effects of the lack of Heperan Sulfate on skeletal development to help find a treatment or cure for MHE.  Heperan Sulfate is a glycoprotein or complex sugar that is made by the EXT genes. Heperan Sulfates are regulators of cell function and interact with many factors involved in cell growth. Heparan Sulfate is found on all cell surfaces. HS fulfills many complex biological functions. HS plays an essential role in many processes including fetal development, inflammation, neuron degeneration, wound healing, cancer, cardiovascular disorders and infectious disease. MHE is only one of many diseases that would benefit from further research into the effects of a mutation in the EXT genes.