Metabolomics of mitochondrial disease

被引：70

作者：

Esterhuizen, Karien ^{[1
]}

van der Westhuizen, Francois H. ^{[1
]}

Louw, Roan ^{[1
]}

机构：

[1] North West Univ, Human Metab, Potchefstroom Campus, Potchefstroom, South Africa

来源：

MITOCHONDRION | 2017年 / 35卷

关键词：

Metabolomics; Mitochondrial disease; OXPHOS; Respiratory chain deficiency; Metabolism; RESPIRATORY-CHAIN DISORDERS; ONE-CARBON METABOLISM; CAENORHABDITIS-ELEGANS; DIAGNOSTIC-CRITERIA; LEIGH-SYNDROME; DNA MUTATIONS; ORGANIC-ACIDS; MOUSE MODEL; C; ELEGANS; IN-VIVO;

D O I：

10.1016/j.mito.2017.05.012

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Mitochondrial disease (MD) diagnostics and disease progression investigations have traditionally relied very little on metabolic data, due to a lack of biomarker sensitivity and specificity. The recent drive to find novel, low intervention biomarkers and new therapeutic approaches have revived an interest in what metabolic data can offer, as presented in this timely review. We review how metabolomics has been applied to MD and provide an extensive overview of the reported metabolic perturbations and common mechanistic features that may provide a basis for future research. We conclude by highlighting the substantial potential of metabolomics for future diagnostics and mitochondrial medicine.

引用

收藏

页码：97 / 110

页数：14

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