. 2016 Jun 22;30(10):3334–3351. doi: 10.1096/fj.201600315R

TABLE 5.

Overrepresented biological processes in PBMCs from premutation carriers and controls

Intermediary metabolism and related proteins	Gene name	Z score relative to controls
Intermediary metabolism and related proteins	Gene name	FXTAS-affected	FXTAS-free
Glycolysis
Hexokinase-1	HK1	−0.4^a	0.0
ATP-dependent 6-phosphofructokinase, platelet type	PFKP	−0.6^a	0.5^b
Fructose-bisphosphate aldolase A	ALDOA	1.2^b	2.2^b
Fructose-bisphosphate aldolase C	ALDOC	−1.0^a	−0.8^a
Triose phosphate isomerase	TPI1	−0.1	1.8^b
Glyceraldehyde-3-phosphate dehydrogenase	GAPDH	0.1	−0.4^a
Phosphoglycerate kinase 1	PGK1	−3.1^a	−2.4^a
Phosphoglycerate mutase 1	PGAM1	−2.1^a	1.5^b
Pyruvate kinase	PKM	−1.2^a	2.4^b
l-Lactate dehydrogenase A chain	LDHA	0.0	−0.1
l-Lactate dehydrogenase B chain	LDHB	−2.9^a	−1.2^a
Na⁺/H⁺ exchange regulatory cofactor NHE-RF1	SLC9A3R1	−0.5^a	0.0
Pentose phosphate shunt
Glucose-6-phosphate 1-dehydrogenase	G6PD	0.7^b	1.2^b
Krebs cycle and ETC
Pyruvate dehydrogenase E1 component subunit alpha, somatic form	PDHA1	−0.6^a	−0.6^a
Dihydrolipoyl dehydrogenase	DLDH	−0.6^a	−0.6^a
Citrate synthase	CS	−0.5^a	−0.2
Aconitate hydratase	ACO2	−0.6^a	−0.4^a
2-Oxoglutarate dehydrogenase	OGDH	−0.6^a	2.2^b
Dihydrolipoyllysine-residue succinyltransferase component of 2-OGDH complex	DLST	−0.6^a	−0.1
Succinyl-CoA ligase [ADP/GDP-forming] subunit alpha	SUCLG1	−0.5^a	−0.7^a
Succinyl-CoA ligase [GDP-forming] subunit beta	SUCLG2	−0.6^a	−0.6^a
Succinate dehydrogenase [ubiquinone] flavoprotein subunit	SDHA	−0.4^a	−0.5^a
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit	SDHB	−0.8^a	−0.5^a
Malate dehydrogenase	MDH2	0.1	2.1^b
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5	NDUFA5	1.2^b	0.9^b
NADH-ubiquinone oxidoreductase 75-kDa subunit	NDUFS1	−0.6^a	0.4^b
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6	NDUFB6	−0.6^a	0.9^b
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10	NDUFB10	−0.6^a	−0.6^a
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3	NDUFS3	−1.1^a	0.1
Electron transfer flavoprotein subunit alpha	ETFA	−0.6^a	−0.6^a
Cytochrome b-c1 complex subunit 1	UQCRC1	0.3	1.7^b
Cytochrome b-c1 complex subunit 2	UQCRC2	0.4^b	0.0
Cytochrome b-c1 complex subunit 7	UQCRB	−0.6^a	−0.6^a
Cytochrome b-c1 complex subunit 8	UQCRQ	0.8^b	−0.1
ATP synthase subunit alpha	ATP5A1	−0.3	−0.7^a
ATP synthase subunit beta	ATP5B	−1.8^a	−2.0^a
ATP synthase subunit O	ATP5O	−0.7^a	−0.7^a
Associated with Krebs’ cycle and transport
Adenylate kinase 2	AK2	0.1	2.2^b
Glutamate dehydrogenase 1	GLUD1	−0.6^a	0.7^b
Succinate-semialdehyde dehydrogenase	ALDH5A1	−0.6^a	−0.6^a
Aspartate aminotransferase	GOT2	−0.6^a	−0.6^a
Phosphate carrier protein	SLC25A3	−0.6^a	−0.6^a
Mitochondrial 2-oxoglutarate/malate carrier protein	SLC25A11	−0.6^a	−0.6^a
Voltage-dependent channel anion isoform 2	VDAC2	−0.6^a	0.3^b
Voltage-dependent channel anion isoform 3	VDAC3	−0.3	1.6^b
Adenine nucleotide translocator isoform 2	ANT2	−0.2	−0.5^a
Adenine nucleotide translocator isoform 3	ANT3	−0.6^a	−0.6^a
Delta-aminolevulinic dehydratase	ALAD	−0.6^a	3.7^b
Fatty acid β-oxidation/ketone bodies
Carnitine O-palmitoyltransferase I	CPT1A	−0.6^a	0
Very long-chain specific acyl-CoA dehydrogenase	ACADVL	−0.4^a	−0.6^a
Enoyl-CoA hydratase	ECHS1	−0.9^a	−0.9^a
Trifunctional enzyme subunit alpha	HADHA	−0.6^a	−0.6^a
Trifunctional enzyme subunit beta	HADHB	−0.6^a	−0.6^a
Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase	ECH1	−0.4^a	−2.0^a
Hydroxyacyl-coenzyme A dehydrogenase	HADH	−0.5^a	−0.6^a
2,4-Dienoyl-CoA reductase	DECR1	−0.1	0.9^b
Acetyl-CoA acetyltransferase	ACAT1	−0.4^a	−0.6^a
Acetyl-CoA acyltransferase	ACAA2	−0.1	0.1
Acylglycerol kinase, mitochondrial	AGK	−0.6^a	−0.6^a
Redox/stress/antioxidant response
10-kDa heat shock protein	HSPE1	−6.0^a	−4.2^a
60-kDa heat shock protein	HSPD1	−0.5^a	−1.1^a
Stress-70 protein (mortalin)	HSPA9	−0.4^a	0.4^b
Thioredoxin reductase 2	TXNRD2	−1.1^a	−0.3
Thioredoxin-dependent peroxide reductase	PRDX3	−0.4^a	0.7^b
Peroxiredoxin-5	PRDX5	−0.7^a	−0.2
NAD(P) transhydrogenase	NNT	−0.6^a	−0.6^a
Isocitrate dehydrogenase [NADP]	IDH2	−0.6^a	−0.6^a
Sulfide/quinone oxidoreductase	SQRDL	−0.6^a	−0.6^a
Persulfide dioxygenase	ETHE1	−0.2	−0.9^a
Superoxide dismutase	SOD2	0.8^a	0.7^b
Mitochondria morphology/dynamics/assembly
Coiled-coil-helix-coiled-coil-helix domain-containing protein 3	MICOS19	−0.6^a	−0.5^a
Cytoplasmic dynein heavy chain 1	DYNC1H1	−0.6^a	−0.1
Conventional kinesin heavy chain	KIF5B	−0.6^a	0.5^b
Protein deglycase DJ-1	PARK7	−0.7^a	0.1
Others
mtDNA replication/transcription
Single-stranded DNA-binding protein	SSBP1	−1.5^a	−0.5^a
Transcription factor A	TFAM	−0.6^a	−0.6^a
Leucine-rich PPR motif-containing protein	LRPPRC	−0.6^a	−0.6^a
Protein biosynthesis
Elongation factor Tu	TUFM	−0.4^a	−0.7^a
Methylglyoxal degradation
Hydroxyacylglutathione hydrolase	HAGH	−2.6^a	−2.6^a
Protein deglycase DJ-1	PARK7	−0.7^a	0.1

Proteins differentially expressed between cells from either asymptomatic or FXTAS-affected compared with controls were evaluated in terms of their z score. Cutoff values were ±0.4 [P(0.4 < Z < −0.4) = 0.311]. Shown are proteins that were differentially expressed in at least one of the two diagnostic groups and belonged to the gene ontology term metabolism. Proteins under glycolysis and pentose phosphate shunt were cytosolic, whereas all others had a mitochondrial location.

Down-regulated.

Up-regulated.