. 2023 Aug 23;8:311. doi: 10.1038/s41392-023-01546-w

Table 3.

Disease-related mitochondrial proteins

Disease	Regulation protein	Functional distribution	Reference
Neuron system
Alzheimer’s disease	CPT1^P.G, BDH1, SCOT, ACAT1	FAO	^{197,201–203}
	IDH1, KGDHC^P	TCA cycle	^178,180,421
	COX5A, NDUFB8^G, OSCP^G, UQCRC2^G	OXPHOS	^{189–194,422–424}
	HSPA9, HSP60^P, CLPP^G	UPR^mt	^208,209,425
Parkinson’s disease	KGDHC^G	TCA cycle	^179,426
	Miro1^G	Mitochondria synaptic transmission, mitophagy	^427–432
	Ndufs2^G	OXPHOS	¹⁹⁶
Cardiovascular system
Heart failure	NDUFAB1^G, NDUFV7^G	OXPHOS	^433,434
	PDH^G, SDHA^G, IDH2^G	TCA cycle	^135,221,222
	CPT1^G, BDH1^G	FAO	^223,224,435
	SOD2^G, PRX-3^G, p66Shc^G	ROS reduction	^{216,226,436,437}
	MPC^G	Pyruvate transport	⁴³⁸
Liver disease
Acute liver failure	GSH^G	ROS reduction	^236,237
	HSP10, HSP60^P	UPR	^234,240,241
	GRP75^G	Transporters and channels	^234,243
	IDH1^G	TCA cycle	²³⁹
NAFLD	CYP2E1^P.G	ROS generation	^256,257
	SOD1, SOD2, Gclc^P, Gclm^P, Gpx1^P.G, GSH^G	ROS reduction	^258–262
	NQO1^G	Redox process	^439,440
	ACAT, ACAC/ACC CPT1α^P, CPT2α, BDH2^G	FAO	^253,254,441
	MPC1, MPC2^G, SLC25A11^P	Transport related to TCA cycle	^255,442,443
	HMGCS2^G	Ketogenesis	^444–447
	PHGDH^G, PSAT1, PSPH	SSP	^255,448
Liver fibrosis	p66Shc^P.G	ROS generation	^449–451
	SOD2^P, GSH^P	ROS reduction	^{420,452–455}
	Hmgcs2^P.G	Ketone body production	^444,446,456
	IDH1^P.G	TCA cycle, AA utilization	^457,458
Skeletal muscle
Myopathy	SDHA^G	TCA cycle	^459–462
	CACT, CPT2^P, ACADVL	FAO	^463–465
	COX10^P.G, NDUFB8, UQCRC1	OXPHOS	^{462,466–469}
	LONP1^G, HSP70	UPR^mt	^470,471
	SOD2^G	ROS reduction	⁴⁷²
	SLC25A42^G	Coenzyme A import	⁴⁷³
Adipose
Diabetes	UCP1^P.G	Thermogenesis	^{301–305,474}
	Ndufv2^G, Ndufs4^G	OXPHOS	^306,307
	MnSOD^G	ROS reduction	^308,475
Immune cell
Adaptive immunity	CPT1a^G, ACAT^P	FAO	^476–478
	SHMT2^G	One-carbon	^31,321
	COX10^G	OXPHOS	³²⁰
	MPC^P.G	Pyruvate import	³²³

^PIndicates proteins that have been studied pharmacologically; ^G indicates proteins that have been studied genetically

CPT-1 Carnitine palmitoyltransferase-1, CPT1α Carnitine palmitoyltransferase-1α, BDH1 3OH-Butyrate dehydrogenase, type1, SCOT Succinyl-CoA,3-ketoacid CoA transferase, ACAT1 Acetyl-CoA acetyltransferase 1, IDH1 Isocitrate dehydrogenase (NADP( + )) 1, KGDHC α-Ketoglutarate dehydrogenase complex, COX5A Cytochrome c oxidase subunit 5A, NDUFB8 NADH,ubiquinone oxidoreductase subunit B8, OSCP Oligomycin sensitivity-conferring protein, UQCRC2 Ubiquinol-cytochrome c reductase core protein 2, HSPA9 Mortalin, Hsp60 chaperonin 60, CLPP Caseinolytic protease P, MCAD Medium-chain acyl-CoA dehydrogenase, Miro1 Mitochondrial Rho-GTPase, Ndufs2 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, NDUFAB1 NADH,ubiquinone oxidoreductase subunit AB1, NDUFV7 NADH dehydrogenase [ubiquinone] flavoprotein 1, PDH Pyruvate dehydrogenase, SDHA Succinate dehydrogenase complex, subunit A, SOD2 Superoxide dismutase 2, PRX-3 Peroxiredoxin 3, p66Shc Src homology 2 domain-containing transforming protein C1, MPC Mitochondrial pyruvate carrier, GSH Glutathione, HSP10 chaperonin 10, GRP75 Glucose-regulated protein 75 kDa, CYP2E1 Cytochrome P450-2E1, SOD1 Superoxide dismutase 1, Gclc Cysteine ligase catalytic subunit, Gclm Glutamate-cysteine ligase modifier subunit, GPX 1 Glutathione peroxidase 1, NQO1 NAD(P)H,Quinone oxidoreductase 1, HMGCS2 3-Hydroxy-3-methylglutaryl CoA synthase 2, ACAT Acetyl-CoA acetyltransferase, ACAC/ACC Acetyl-CoA carboxylase, SLC25A11 Oxoglutarate carrier, PHGDH Phosphoglycerate dehydrogenase, PSAT1 Phosphoserine aminotransferase 1, PSPH Phosphoserine phosphatase, SLC25A42 Mitochondrial coenzyme A (CoA) transporter, ACADVL Acyl-CoA dehydrogenase very long chain, UQCRC1 Cytochrome b-c1 complex subunit 1, LONP1 Lon protease homolog, HSP70 Chaperonin 70, UCP1 Uncoupling protein 1, Ndufv2 NADH dehydrogenase [ubiquinone] Flavoprotein 2, Ndufs4 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, MnSOD Manganese superoxide dismutase, SHMT2 Serine hydroxymethyl transferase 2, COX10 Cytochrome c oxidase assembly homolog 10, UPRmt mitochondrial unfolding protein response, SSP Serine synthesis pathway, AA utilization Amino acid utilization