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Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.蛋白酶体抑制剂硼替佐米增强庞贝病中溶酶体α-葡萄糖苷酶多种突变形式的活性。
JIMD Rep. 2015;18:33-9. doi: 10.1007/8904_2014_345. Epub 2014 Sep 26.
2
Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.蛋白酶体抑制剂可改善携 c.546G>T 突变的 Pompe 病患者成纤维细胞中突变溶酶体α-葡萄糖苷酶的功能。
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3
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.内质网应激通过激活 Pompe 病患者携带 c.546G>T 突变的成纤维细胞中的 p38 MAPK 诱导自噬。
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Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.庞贝病患者成纤维细胞中突变α-葡萄糖苷酶活性的药理学增强
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Nafamostat Mesilate Enhances the Radiosensitivity and Reduces the Radiation-Induced Invasive Ability of Colorectal Cancer Cells.甲磺酸萘莫司他增强大肠癌细胞的放射敏感性并降低辐射诱导的侵袭能力。
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本文引用的文献

1
Bortezomib (PS-341) treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs.硼替佐米（PS-341）治疗可减轻炎症反应，并部分挽救 GRMD 犬中肌营养不良糖蛋白复合物的表达。
PLoS One. 2013 Apr 8;8(4):e61367. doi: 10.1371/journal.pone.0061367. Print 2013.
2
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.硼替佐米在治疗性蛋白治疗疾病中快速降低高持续抗体滴度：庞贝病的经验教训。
Genet Med. 2013 Feb;15(2):123-31. doi: 10.1038/gim.2012.110. Epub 2012 Oct 11.
3
Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.蛋白酶体抑制剂可改善携 c.546G>T 突变的 Pompe 病患者成纤维细胞中突变溶酶体α-葡萄糖苷酶的功能。
Biochem Biophys Res Commun. 2011 Nov 18;415(2):274-8. doi: 10.1016/j.bbrc.2011.10.038. Epub 2011 Oct 18.
4
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.抗体对治疗性蛋白治疗疾病的临床结局的影响：从婴儿庞贝病中得到的经验教训。
Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.
5
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.针对药物伴侣响应的 S529V 突变酸性α-葡萄糖苷酶的生化和结构研究。
J Hum Genet. 2011 Jun;56(6):440-6. doi: 10.1038/jhg.2011.36. Epub 2011 Apr 7.
6
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.成年人庞贝病抗体滴度高会影响阿糖苷酶α的治疗效果。
Mol Genet Metab. 2010 Dec;101(4):338-45. doi: 10.1016/j.ymgme.2010.08.009. Epub 2010 Aug 14.
7
A randomized study of alglucosidase alfa in late-onset Pompe's disease.一项针对晚发性庞贝病的阿糖苷酶 α 的随机研究。
N Engl J Med. 2010 Apr 15;362(15):1396-406. doi: 10.1056/NEJMoa0909859.
8
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.药物伴侣 1-脱氧野尻霉素增加了多种酸性α-葡萄糖苷酶突变体的活性和溶酶体转运。
Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121.
9
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.免疫交叉反应物质状态会影响庞贝病婴儿的治疗效果。
Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.
10
Pompe's disease.庞贝氏病
Lancet. 2008 Oct 11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.

蛋白酶体抑制剂硼替佐米增强庞贝病中溶酶体α-葡萄糖苷酶多种突变形式的活性。

Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.

作者信息

Shimada Yohta, Nishimura Erica, Hoshina Hiroo, Kobayashi Hiroshi, Higuchi Takashi, Eto Yoshikatsu, Ida Hiroyuki, Ohashi Toya

机构信息

Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, 105-8461, Japan,

出版信息

JIMD Rep. 2015;18:33-9. doi: 10.1007/8904_2014_345. Epub 2014 Sep 26.

DOI:10.1007/8904_2014_345
PMID:25256446
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4361917/
Abstract

Pompe disease is an autosomal recessive myopathic disorder caused by the deficiency of lysosomal acid α-glucosidase (GAA). Recently, we showed that function of mutant GAA in fibroblasts derived from Pompe disease patient carrying c.546G>T mutation is improved by treatment with proteasome inhibitor bortezomib as well as pharmacological chaperone (PC). However, bortezomib-responsive GAA mutations are not fully characterized. In this study, we showed the effect of bortezomib on different mutants of GAA in patient fibroblasts and transiently expressed HEK293T cells. Bortezomib increased the maturation and residual activity of GAA in patient fibroblasts carrying PC-responsive M519V and PC-unresponsive C647W mutations. Enhanced colocalization of GAA with lysosomal marker LAMP2 was also observed in patient fibroblasts after treatment with bortezomib. When four distinct mutant GAAs, which show different response to PC, were overexpressed in HEK293T cells, bortezomib improved the activity of M519V, S529V, and C647W in them (1.3-5.9-fold). These results indicate that bortezomib enhances the activity of some PC-unresponsive GAA mutants as well as PC-responsive mutants.

摘要

庞贝病是一种由溶酶体酸性α-葡萄糖苷酶（GAA）缺乏引起的常染色体隐性肌病。最近，我们发现携带c.546G>T突变的庞贝病患者成纤维细胞中，突变型GAA的功能通过蛋白酶体抑制剂硼替佐米以及药理伴侣（PC）处理得到改善。然而，硼替佐米反应性GAA突变尚未完全明确。在本研究中，我们展示了硼替佐米对患者成纤维细胞和瞬时表达的HEK293T细胞中不同GAA突变体的影响。硼替佐米提高了携带PC反应性M519V和PC无反应性C647W突变的患者成纤维细胞中GAA的成熟度和残余活性。硼替佐米处理后的患者成纤维细胞中，还观察到GAA与溶酶体标记物LAMP2的共定位增强。当在HEK293T细胞中过表达对PC有不同反应的四种不同突变型GAA时，硼替佐米提高了其中M519V、S529V和C647W的活性（1.3至5.9倍）。这些结果表明，硼替佐米增强了一些PC无反应性GAA突变体以及PC反应性突变体的活性。