Suppr超能文献

导致PMM2-CDG的突变对PMM2蛋白折叠、活性及稳定性的影响

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

作者信息

Yuste-Checa Patricia, Gámez Alejandra, Brasil Sandra, Desviat Lourdes R, Ugarte Magdalena, Pérez-Cerdá Celia, Pérez Belén

机构信息

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid/Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain.

出版信息

Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23.

Abstract

Congenital disorder of glycosylation type Ia (PMM2-CDG), the most common form of CDG, is caused by mutations in the PMM2 gene that reduce phosphomannomutase 2 (PMM2) activity. No curative treatment is available. The present work describes the functional analysis of nine human PMM2 mutant proteins frequently found in PMM2-CDG patients and also two murine Pmm2 mutations carried by the unique PMM2-CDG mouse model described to overcome embryonic lethality. The effects of the mutations on PMM2/Pmm2 stability, oligomerization, and enzyme activity were explored in an optimized bacterial system. The mutant proteins were associated with an enzymatic activity of up to 47.3% as compared with wild type (WT). Stability analysis performed using differential scanning fluorimetry and a bacterial transcription-translation-coupled system allowed the identification of several destabilizing mutations (p.V44A, p.D65Y, p.R123Q, p.R141H, p.R162W, p.F207S, p.T237M, p.C241S). Exclusion chromatography identified one mutation, p.P113L, that affected dimer interaction. Expression analysis of the p.V44A, p.D65Y, p.R162W, and p.T237M mutations in a eukaryotic expression system under permissive folding conditions showed the possibility of recovering their associated PMM2 activity. Together, the results suggest that some loss-of-function mutations detected in PMM2-CDG patients could be destabilizing, and therefore PMM2 activity could be, in certain cases, rescuable via the use of synergetic proteostasis modulators and/or chaperones.

摘要

先天性糖基化障碍Ia型(PMM2-CDG)是最常见的CDG形式,由PMM2基因突变导致磷酸甘露糖变位酶2(PMM2)活性降低引起。目前尚无治愈性治疗方法。本研究描述了在PMM2-CDG患者中经常发现的九种人类PMM2突变蛋白的功能分析,以及为克服胚胎致死性而描述的独特PMM2-CDG小鼠模型携带的两种小鼠Pmm2突变。在优化的细菌系统中探索了这些突变对PMM2/Pmm2稳定性、寡聚化和酶活性的影响。与野生型(WT)相比,突变蛋白的酶活性高达47.3%。使用差示扫描荧光法和细菌转录-翻译偶联系统进行的稳定性分析,鉴定出了几种使蛋白不稳定的突变(p.V44A、p.D65Y、p.R123Q、p.R141H、p.R162W、p.F207S、p.T237M、p.C241S)。排阻色谱法鉴定出一个影响二聚体相互作用的突变p.P113L。在允许折叠的条件下,在真核表达系统中对p.V44A、p.D65Y、p.R162W和p.T237M突变进行表达分析,结果表明有可能恢复其相关的PMM2活性。总之,这些结果表明,在PMM2-CDG患者中检测到的一些功能丧失突变可能会使蛋白不稳定,因此在某些情况下,通过使用协同的蛋白质稳态调节剂和/或伴侣蛋白,可以挽救PMM2的活性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验