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Table 3 Top Ten under-expressed and over-expressed genes in MDS vs control muscle

From: 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

Gene name

Description

FC

FDR

Under-expressed

   

ATP2A1

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

-9.1

0

FBP2

Fructose-1,6-bisphosphatase 2

-9.1

0

MYLK2

Myosin light chain kinase 2

-7.1

0

ANKRD23

Ankyrin- repeat domain containing protein 23

-7.1

0

ACTN3

Actinin, alpha 3

-6.9

0

AQP4

Aquaporin 4

-6.2

5.88E-04

GLUL

Glutamine synthase

-5.9

0.002

SMTNL2

Smoothelin-like 2

-6.2

2.86E-04

ARRDC2

Arrestin domain containing 2

-5.8

2.86E-04

TRIM63

Tripartite motif containing 63, E3 ubiquitin protein ligase

-5.5

0.002

PYGM

Glycogen phosphorylase

-4.8

0.001

Over-expressed

   

GDF15

Growth Differentiation Factor 15

188

0

MYH8

Myosin Heavy Chain Embryonic

119

0

TRIB3

Tribbles homolog 3

47

0

MYH3

Myosin Heavy Chain Neonatal

24

0

SNAR-A3

Small nuclear ILF3/NF90-associated RNA A3

23

0

TNNT2

Troponin T2, cardiac

21

0

DEFB1

Defensin beta-1 malignant brain tumours 1

16

0

TMEM63C

Transmembrane protein 63C

16

0

DMBT1

Deleted in malignant brain tumors 1

11.3

0

COL19A1

Collagen type XIX

11

0

  1. MDS: mitochondrial DNA depletion syndrome group. FC: fold-change; FDR: false discovery rate.