同时分析血清和尿液不同表达的蛋白质在粘多糖症I型
Kefu Liu1, Gefan Wan1, Yongcong Li1
1MOE Key Laboratory of Rare Pediatric Diseases & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan 410013, China.
Journal of proteome research
|January 2, 2024
概括
早期发现I型粘多糖症 (MPS I) 是至关重要的. 血清和尿液的蛋白质组分析确定了这种溶酶体储存疾病的关键蛋白质生物标志物,有助于早期诊断和干预.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 代谢学 代谢学 代谢学
背景情况:
- 第一种类型的粘多糖症 (MPS I) 是一种严重的溶酶体储存疾病,由α-L-氨酸酶 (IDUA) 缺乏引起.
- 由于MPS I的进展性和不可逆转性质,强调了早期诊断和干预的急需.
研究的目的:
- 为了确定MPS I患者血清和尿液中的差异性蛋白质配置文件.
- 评估综合血清-尿液蛋白质组分析对MPS I诊断的有用性.
主要方法:
- 串联质量标记 (TMT) 技术用于血清和尿液样本的蛋白质组分析.
- 并行反应监测 (PRM) 用于验证差异表达蛋白 (DEP).
主要成果:
- 在血清中发现了182个DEP,其中9个被PRM验证.
- 在MPS I血清中,APOA1和LGFBP3的下调;ALDOB,CD163,CRTAC1,DPP4,LAMP2,SHBG和SPP2的上调.
- 32种尿液DEP与血清发现一致,具有高诊断AUC值.
结论:
- 综合血清尿蛋白质组分析对于评估MPS I进展是有价值的.
- 鉴定的蛋白质生物标志物可以帮助早期检测MPS I和其他代谢障碍.
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