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 4 KEGG Pathway Enrichment Analysis for differential genes in MDS vs control muscle

KEGG Pathway	FDR (%)
Over-expressed
Intestinal immune network for IgA production	0.03
Systemic lupus erythematosus	0.05
Viral myocarditis	0.09
Type I diabetes mellitus	0.10
Allograft rejection	0.33
Graft-versus-host disease	0.52
Cell adhesion molecules (CAMs)	0.67
Asthma	0.92
p53 signaling pathway	2.05
Autoimmune thyroid disease	2.20
PPAR signaling pathway	2.24
Glycine, serine and threonine metabolism	8.98
Under-expressed
Cardiac muscle contraction	1.16E-04
Glycolysis/gluconeogenesis	0.05
Fructose and mannose metabolism	0.09
Hypertrophic cardiomyopathy (HCM)	0.61
Dilated cardiomyopathy	1
Calcium signaling pathway	1.9
Starch and sucrose metabolism	2.4
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	7.2

ISSN: 1471-2164