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

被引:288
作者
Cosma, MP
Pepe, S
Annunziata, I
Newbold, RF
Grompe, M
Parenti, G
Ballabio, A [1 ]
机构
[1] Telethon Inst Genet & Med, I-80131 Naples, Italy
[2] Univ Naples Federico 2, 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
关键词
D O I
10.1016/S0092-8674(03)00348-9
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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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收藏
页码:445 / 456
页数:12
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