Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

Table 4

Summary of proteomic results from specimens of MMACHC patients.

Cellular system	Main results	MS-based proteomic technology	References
Fibroblasts	Underexpression of proteins related to apoptosis and metabolism. Overexpression of oxidative stress proteins	2D-DIGE/MALDI-TOF and MALDI-TOF/TOF	Ebhardt et al., 2006 [87]
Fibroblasts	Differentially expressed proteins related to cellular metabolism and regulation, cytoskeleton assembly, neurological system, cell signaling, and detoxification	2D-DIGE/LC-MS	Richard et al., 2011 [89]
Lymphocytes	Deregulation of proteins involved in oxidative stress and cellular detoxification, energy metabolism, cytoskeleton organization, and assembly	2D-DIGE/LC-MS/MS; and MALDI-TOF/TOF	Hannibal et al., 2015 [90]
Liver	Differentially expressed proteins involved in energy and carbohydrate metabolism	2D-DIGE/LC-MS/MS; and MALDI-TOF/TOF	Caterino et al., 2015 [91]