相关实验视频

Updated: Jul 9, 2025

An Integrated Workflow of Identification and Quantification on FDR Control-Based Untargeted Metabolome

An Integrated Workflow of Identification and Quantification on FDR Control-Based Untargeted Metabolome

Published on: September 20, 2022

使用三重四极质谱法进行frataxin分析:应用于大型异质临床队列

David R Lynch^1,2,3, Teerapat Rojsajjakul^4,5, S H Subramony⁶

¹Penn/CHOP Friedreich Ataxia Center of Excellence, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. lynchd@pennmedicine.upenn.edu.

Journal of neurology

|December 8, 2023

概括

在血液中使用质谱仪的法素水平 (FXN-M和FXN-E) 的评估有助于理解弗里德里希心动症 (FRDA). 弗拉塔克辛水平与疾病严重程度和遗传标志物相关,为治疗疗效提供了潜在的生物标志物.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
神经学神经学

背景情况:

弗里德里希缺氧 (Friedreich ataxia,简称FRDA) 是一种由frataxin缺乏症引起的渐进式多系统性疾病.
弗拉塔克辛是一种线粒体蛋白质,对铁硫合成至关重要.
存在两种frataxin类型,FXN-M和FXN-E,其中FXN-E主要存在于红细胞中.

研究的目的:

在大量FRDA患者中评估frataxin水平 (FXN-M和FXN-E).
为了确定基于血液的frataxin测定对监测FRDA的有用性.
为了将frataxin水平与遗传标记和临床状态相关联.

主要方法:

采用了基于质谱的三重四极测量方法.
分析了来自106名FRDA患者的血液样本.
检查的frataxin水平 (FXN-E和FXN-M) 以及它们与GAA重复长度和临床分数的关系.

主要成果:

弗拉塔克辛水平与GAA重复时间相关 (R2=0.51对于FXN-M,R2=0.27对于FXN-E).
弗拉塔克辛水平预测了临床状态 (R2=0.13-0.16).
考虑到血红蛋白水平提高了预测准确度.

结论:

对FXN-M和FXN-E的血液分析适用于评估FRDA中的frataxin补充.
在FRDA的特定临床环境中,frataxin水平作为一个相关的生物标志物.
这种测试提供了一种敏感的方法,用于评估FRDA临床试验中的治疗干预措施.

关键词:

残疾人身份的情况.弗拉塔克辛在血液中的水平.弗里德里希阿塔克西亚评级尺度评级尺度在GAA中,重复的长度是GAA的重复长度.线粒体蛋白质是一种线粒体蛋白质.

更多相关视频

Quantitative Mass Spectrometric Profiling of Cancer-cell Proteomes Derived From Liquid and Solid Tumors

Quantitative Mass Spectrometric Profiling of Cancer-cell Proteomes Derived From Liquid and Solid Tumors

Published on: February 27, 2015

Proteomic Sample Preparation from Formalin Fixed and Paraffin Embedded Tissue

Proteomic Sample Preparation from Formalin Fixed and Paraffin Embedded Tissue

Published on: September 2, 2013

相关概念视频

Peptide Identification Using Tandem Mass Spectrometry

Peptide Identification Using Tandem Mass Spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...