The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
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四种突变对 II 型粘多糖贮积症中艾杜糖醛酸-2-硫酸酯酶表达的影响。
DOI：
10.1016/s0925-4439(01)00075-8
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
M. Filocamo
中科院分区：
文献类型：
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作者：
G. Bonuccelli;P. di Natale;F. Corsolini;G. Villani;S. Regis;M. Filocamo
II型粘多糖样变性（亨特氏综合征; OMIM 309900）是一种罕见的X连锁隐性溶酶体贮积症，由艾杜糖醛酸-2-硫酸酯酶缺乏引起（IDS; EC 3.1.6.13）。在IDS基因座的不同的改变，主要是错义突变，已被证明，通过表达研究，作为有害的，导致酶的功能或稳定性的显着后果。在本研究中，我们报告了新的K347 T，533 delTT，N265 I和已经描述的473 delTCC（以前称为ΔS117）突变在COS 7细胞中的瞬时表达结果，证明了它们对IDS活性的功能性影响。这种类型的信息对于基因型-表型相关性、预后和可能的治疗干预是潜在有用的。
Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13). Different alterations at the IDS locus, mostly missense mutations, have been demonstrated, by expression study, as deleterious, causing significant consequences on the enzyme function or stability. In the present study we report on the results of the transient expression of the novel K347T, 533delTT, N265I and the already described 473delTCC (previously named ΔS117) mutations in the COS 7 cells proving their functional consequence on IDS activity. This type of information is potentially useful for genotype–phenotype correlation, prognosis and possible therapeutic intervention.