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Table 9 List of genes differentially expressed (over and under-expressed) relative to control muscle in both MDEL and MDS 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 MDS

FC MDEL

ACTN3

Actinin, alpha 3

-6.9

-2.7

AQP4

Aquaporin 4

-6.2

+2.8

MARCO

Macrophage receptor with collagenous structure

-4

-4.1

TNMD

Tenomodulin

-4

-4.7

C8orf22

Chromosome 8 open reading frame 22

-4

+3.6

ADAMTS8

ADAM metallopeptidase with thrombospondin type 1 motif, 8

- 3.7

-5.1

AGXT2L1

Alanine-glyoxylate aminotransferase 2-like 1

-3.5

-2.5

SLITRK4

SLIT and NTRK-like family, member 4

-3.3

-3.4

FNDC1

Fibronectin type III domain containing 1

-3.2

-2.5

SERPINA5

Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5

-2.8

-2.4

GAS2L2

Growth arrest-specific 2 like 2

-2.8

-2.6

MYH1

Myosin, heavy chain 1, skeletal muscle, adult

-2.7

+2.8

IL32

Interleukin 32

-2.6

-4

ITGA10

Integrin, alpha 10

-2.5

-3.3

FMOD

Fibromodulin

-2.3

-4

FOS

FBJ murine osteosarcoma viral oncogene homolog

-2.3

+2.4

IL17D

Interleukin 17D

-2.3

+2.6

EIF1AY

Eukaryotic translation initiation factor 1A, Y-linked

-2.2

-2.5

RPS4Y1

Ribosomal protein S4, Y-linked 1

-2.1

-2.7

GDF15

Growth and differentiation factor 15

+187.9

+6.2

MYH8

Myosin heavy chain embryonic

+118.7

+3.6

TRIB3

Tribbles homologue 3

+47.1

+5

DEFB1

Defensin beta

+16.6

+4.5

Tmem63c

Transmembrane protein 63C

+16.2

+2.9

SNORD3B-1

Small nucleolar RNA, C/D box 3B-1

+6.8

+3.2

SNORD15A

Small nucleolar RNA, C/D box 15A

+6.3

+3.7

SNORA28

Small nucleolar RNA, H/ACA box 28

+6.3

+4.9

ATF5

Activating transcription factor 5

+6.3

+2.1

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

+6.2

+2.7

GOS2

G0/G1 switch regulatory protein

+6.1

+4.8

HBA2

Hemoglobin, alpha 2

+5.9

+4.5

XIST

X (inactive)-specific transcript (non-protein coding)

+5.8

+4.1

HBD

Hemoglobin, delta

+5.8

+5.3

C3

Complement component 3

+5.6

+2.1

SNORA74A

Small nucleolar RNA, H/ACA box 74A

+5.6

+2.8

HBB

Hemoglobin, beta

+5.5

+4.9

SNORD17

Small nucleolar RNA, H/ACA box 17

+5.2

+2.5

PRODH

Proline dehydrogenase (oxidase) 1

+5.2

+2.3

CD36

CD36 molecule (thrombospondin receptor)

+4.7

+2.4

CES1

Carboxylesterase 1

+4.6

+2.9

SCL26A9

Solute-linked carrier 26 alpha 9

+4.4

+3.6

FABP5

Fatty acid binding protein 5

+4.4

+2.3

RNU105A

RNA, U105A small nucleolar

+4.3

+2.2

RN7SK

RNA, 7SK small nuclear

+4.3

+2.7

CIDEC

Cell death-inducing DFFA-like effector c

+3.9

+2.6

FABP4

Fatty acid binding protein 4

+3.9

+2.1

IGLL5

Immunoglobulin lambda-like polypeptide 5

+3.9

+3

ALAS2

Aminolevulinate, delta-, synthase 2

+3.3

+2.6

MYL10

Myosin, light chain 10, regulatory

+3.2

+4

ADH1A

Alcohol dehydrogenase 1A (class I), alpha polypeptide

+3.1

+3.5

SCARNA5

Small Cajal body-specific RNA 5

+2.4

+2.4

SNORA81

Small nucleolar RNA, H/ACA box 81

+2.3

+2.3

KCNE1L

KCNE1-like

+3

+2.6

RBP4

Retinol binding protein 4

+2.9

+3

GZMH

Granzyme H (cathepsin G-like 2, protein h-CCPX)

+2.9

+2.3

HBG1

Hemoglobin, gamma A

+2.7

+3.6

DPYSL4

Dihydropyrimidinase-like 4

+2.6

+3.1

FMO2

Flavin containing monooxygenase 2

+2.5

+2.6

C20orf26

Chromosome 20 open reading frame 26

+2.5

+3.5

HIST1H4L

Histone cluster 1, H4l

+2.5

+2.7

SCARNA16

Small Cajal body-specific RNA 16

+2.5

+3.9

COL21A1

Collagen, type XXI, alpha 1

+2.4

+2.7

ANGPTL4

Angiopoietin-like 4

+2.4

-3.5

RNU1-5

RNA, U1 small nuclear 5

+2.3

+3.8

COL1A1

Collagen, type I, alpha 1

+2.1

-4.2

RNU2-2

RNA, U2 small nuclear 2

+2

1.9