SULFATASES AND HUMAN DISEASES
- 3 Years 2003/2006
- 257.822€ Total Award
Sulfatases are a family of enzymes that are very important in human metabolism. Eight human genetic diseases are caused by the deficiency of individual sulfatases. To perform enzymatic activity, sulfatases need to be activated by a modification, which occurs in the cell after they are synthesized. In a rare genetic disease, named Multiple Sulfatase Deficiency (MSD), all sulfatase are inactive due to a defect in a gene that is responsible for this modification. Recently, we have identified this gene and found that is mutated in patients with MSD. We have also demonstrated
that this gene, that we named SUMF1 (Sulfatase Modifying Factor 1), is able to rescue the enzymatic deficiency in MSD patients‘ cells. In addition, SUMF1 has a striking enhancing effect on the activity of sulfatases in cultured cells. These data have profound implications on the feasibility of enzyme replacement therapy for the eight diseases due to sulfatase deficiencies. In the present grant proposal we plan to study in details SUMF1 function both in vitro and in vivo in animal models that will be used to test SUMF1 as a tool for gene therapy.