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

Maria Pia Cosma, Stefano Pepe, Ida Annunziata, Robert F. Newbold, Markus Grompe, Giancarlo Parenti, Andrea Ballabio

Research output: Contribution to journalArticle

232 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)445-456
Number of pages12
JournalCell
Volume113
Issue number4
DOIs
StatePublished - May 16 2003

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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