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| The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases |
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| Author(s): Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A |
| Source: CELL Volume: 113 Issue: 4 Pages: 445-456 Published: MAY 16 2003 |
| Times Cited: 93 References: 40 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Ballabio, A (reprint author), Telethon Inst Genet & Med, I-80131 Naples, Italy |
Addresses:
1. Telethon Inst Genet & Med, I-80131 Naples, Italy
2. Univ Naples Federico II, Dept Pediat, I-80131 Naples, Italy
3. Brunel Univ, Brunel Inst Canc Genet & Pharmacogenom, Uxbridge UB8 4SP, Middx England
4. Oregon Hlth Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA
5. Univ Naples 2, I-80131 Naples, Italy |
| Publisher: CELL PRESS, 1100 MASSACHUSETTS AVE, CAMBRIDGE, MA 02138 USA |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: 680MG |
| ISSN: 0092-8674 |
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