[HTML][HTML] The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

MP Cosma, S Pepe, I Annunziata, RF Newbold… - Cell, 2003 - cell.com
Cell, 2003cell.com
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all
sulfatases are impaired due to a defect in posttranslational modification. Here we report the
identification, by functional complementation using microcell-mediated chromosome
transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in
patients' cell lines. Functional conservation of this gene was observed among distantly
related species, suggesting a critical biological role. Coexpression of SUMF1 with sulfatases …
Abstract
In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conservation of this gene was observed among distantly related species, suggesting a critical biological role. Coexpression of SUMF1 with sulfatases results in a strikingly synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. These data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism.
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