Application of proteomics technology in diagnosis and pathogenesis of genetic metabolic diseases
10.3760/cma.j.cn114452-20210825-00538
- VernacularTitle:蛋白质组学技术在遗传代谢病诊断与致病机制研究中的应用
- Author:
Zinan YU
1
;
Yu ZHANG
;
Xinwen HUANG
Author Information
1. 浙江大学医学院附属儿童医院遗传代谢科，国家儿童健康与疾病临床医学研究中心 国家儿童区域医疗中心，杭州 310052
- Keywords:
Metabolism, inborn errors;
Proteomics;
Biomarkers
- From:
Chinese Journal of Laboratory Medicine
2022;45(3):300-304
- CountryChina
- Language:Chinese
-
Abstract:
Inborn Errors of Metabolism (IEM) are diseases caused by genetic defects in the biosynthesis of certain enzymes, receptors, carriers and membrane pumps composed of peptides and/or proteins necessary to maintain normal metabolism of the body, namely, mutations in the genes encoding such peptides (proteins). Through metabolomic analysis of sugars, amino acids, organic acids, fatty acids, carnitine and other substances in blood or urine, as well as cellular enzymology, molecular biology and proteomics analysis. We can identify and quantify abnormal biomarks, determine biomarkers as diagnostic and therapeutic monitoring tools. At the same time, through proteomic research. We can provide scientific basis for the pathogenesis of hereditary metabolic diseases.
