SULFATASES AND HUMAN DISEASES: INSIGHT FROM MULTIPLE SULFATASE DEFICIENCY

In a rare and severe genetic disease, named Multiple Sulfatase Deficiency, the activity of many enzymes, named sulfatases, is impaired due to a mutation of a single gene. Patients affected by this disease have all the symptoms associated to the deficiency of each sulfatase enzyme. Therefore, studying this complex disease may help us understanding the mechanisms underlying an entire group of disorders. In a previous study we identified this gene and the types of gene mutations causing the disease. Recently, we have generated a mouse which has a mutation in the same gene as the human patients. In this project we propose to study this animal model by a variety of approaches to better understand the disease mechanisms and to develop more efficient therapies for this group of diseases.