Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

Table 8 KEGG Pathway Enrichment Analysis for differential genes in MDEL vs MDS muscle

KEGG Pathway	% FDR
Over-expressed
hsa04260:Cardiac muscle contraction	0.09341201
hsa04020:Calcium signaling pathway	0.162733253
hsa00010:Glycolysis / Gluconeogenesis	1.309001667
hsa00020:Citrate cycle (TCA cycle)	4.872315134
hsa00260:Glycine, serine and threonine metabolism	4.872315134
hsa05012:Parkinson’s disease	6.113594087
hsa04910:Insulin signaling pathway	8.953173862
hsa05010:Alzheimer’s disease	13.57653918
hsa00190:Oxidative phosphorylation	17.58596026
Under-expressed
hsa04512:ECM-receptor interaction	1.95E-04
hsa04115:p53 signaling pathway	0.221772048
hsa05322:Systemic lupus erythematosus	0.910185594
hsa04510:Focal adhesion	3.486083165
hsa04610:Complement and coagulation cascades	5.368404888

ISSN: 1471-2164