Gaucher disease: multiple lessons from a single gene disorder
Gaucher disease: multiple lessons from a single gene disorder
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DOI：
10.1080/08035320600619039
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发表时间：
2006-04-01
期刊：
影响因子：
3.8
通讯作者：
Beutler, Ernest
中科院分区：
文献类型：
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作者：
Beutler, Ernest
戈谢病是最常见的溶酶体贮积病。它是由溶酶体酶葡糖脑苷脂酶（一种β-葡糖苷酶）缺乏引起的，这导致脂质葡糖脑苷脂在全身巨噬细胞中蓄积。戈谢病在德系犹太人群体中最常见，并且编码葡萄糖脑苷脂酶（GBA）的基因的三种突变已被证明在该群体中普遍存在（c. 1226 A > C [N370S]，84GG和IVS2 [ +1]）。在非犹太人患者中，最常见的突变是c。1448 G > C（L444 P）。直到15年前，治疗一直局限于对症干预，如脾切除术或髋关节置换术。然而，现在有具体的治疗选择-酶替代疗法和底物减少疗法。未来的发展可能包括使用分子伴侣therapy.Conclusion：我们已经从戈谢病学到的教训可能适用于其他一些不太常见的溶酶体贮积病的治疗方法的发展。
Gaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a beta-glucosidase, which results in the accumulation of the lipid glucocerebroside in macrophages throughout the body. Gaucher disease is most common in the Ashkenazi Jewish population, and three mutations of the gene encoding glucocerebrosidase (GBA) have been shown to be prevalent in this population (c. 1226 A > C [N370S], 84GG and IVS2 [ +1]). In non-Jewish patients, the most common mutation is c. 1448 G > C (L444P). Until 15 years ago, treatment has been restricted to symptomatic interventions, such as splenectomy or hip replacement. However, there are now specific treatment options - enzyme replacement therapy and substrate reduction therapy. Future developments may include the use of chaperone therapy.Conclusion: The lessons that we have learned from Gaucher disease may well be applicable to the development of therapies for some of the other less common lysosomal storage diseases.