Diagnosis and treatment of multiple sulfatase deficiency and other sulfatase deficiencies

摘要

Provided is an isolated sulfatase-producing cell wherein the ratio of active sulfatase to total sulfatase produced by the cell is increased, wherein the cell expresses: (i) a sulfatase, wherein the sulfatase is an activated form of an endogenous sulfatase or an exogenous sulfatase, and wherein expression of the sulfatase is increased as compared to expression in the same cell type without the activated form of the sulfatase; and (ii) a Formylglycine Generating Enzyme, wherein the Formylglycine Generating Enzyme is an exogenous eukaryotic Formylglycine Generating Enzyme, and wherein expression of the Formylglycine Generating Enzyme is increased as compared to expression in the same cell type without the activated form of the Formylglycine Generating Enzyme, wherein the ratio of active sulfatase to total sulfatase produced by the cell is increased by at least 5% over the ratio of active sulfatase to total sulfatase produced by the cell in the absence of the Formylglycine Generating Enzyme. Further provided are such cells containing specific genes and sequences of FGE and sulfatase when produced by such cells.