Table 1.

Liquid biopsy in individualised diagnostics and prediction of pathologies associated with mitochondriopathies

Biomarker	Type of mitochondrial disease	Fluid sample	Results	Reference
mtDNA	Alzheimer’s disease patients	Cerebrospinal fluid	↓ mtDNA in presymptomatic patients with PSEN1 mutation	[132]
ApoE			↑ ApoE compared to control	[133]
Oxidant and antioxidant metabolites		Blood	↑ Oxidative stress, ↑ hydrogen peroxide, ↑ organic hydroperoxides, ↓ GSH/GSSG ratio, ↓ GSH transferase, ↓ ATP compared to young adult control	[134]
Lipofuscin-like pigments			↑ Lipofuscin-like pigments compared to control	[135]
β-amyloid		Plasma	↑ β-amyloid in Alzheimer’s disease patients, ↓ β-amyloid after vitamin D treatment, ↓ β-amyloid-related biomarkers (Aβ42, APP, BACE1, APPmRNA, BACE1mRNA)	[136]
8-OHdG		Urine	Different levels of 8-OHdG and 2’-deoxyguanosine between patients with Alzheimer’s disease and healthy control	[137]
AD7C neural thread protein			↑ AD7C neural thread protein in Alzheimer’s disease patients compared to non- Alzheimer’s disease dementia, and healthy normal individuals	[138]
DJ1	Parkinson’s disease patients	Cerebrospinal fluid	↑ DJ1 compared to control	[139]
Advanced oxidised protein products		Cerebrospinal fluid and serum	↑ Advanced oxidised protein products compared to control	[140]
ROS and SOD		Blood	↑ mtROS in monocytes, ↓ antioxidant SOD in blood	[141]
Oxidative stress markers			↓ GSH peroxidase, ↑ oxidised GSH, ↑ MDA contents	[142]
Uric acid		Serum	↓ Uric acid	[143]
Biopyrrin		Urine	↑ Biopyrrin compared to control	[144]
ApoC3	Coronary heart disease patients	Serum	↓ ApoC3, ↓ triglyceride after aerobic exercise for 8 weeks compared to baseline	[145]
Cardiac troponin I	Patients with acute decompensated heart failure		↑ Cardiac troponin I is associated with poor prognosis and increased mortality	[146]
N-terminal portion of pro-brain natriuretic peptide and adrenomedullin	Ischemic heart disease patients	Plasma	↑ N-terminal portion of pro-brain natriuretic peptide and adrenomedullin predict heart failure and death	[147]
Tumour necrosis factor-α receptor-1 and brain natriuretic peptide	Ischemic heart failure patients		Levels are highly predictive for the primary end point of death or cardiac hospitalisation	[148]
D-dimer	Stroke and coronary heart disease patients		↑ Basal plasma level of d-dimer is associated with ischemic stroke, especially cardioembolic stroke	[149]
Hsa_circ_0001445	Coronary artery disease patients	Plasma	Levels of hsa_circ_0001445 are proportional to coronary atherosclerotic burden	[150]
Hsa_circ_0001879 and hsa_circ_0004104		Blood	↑ hsa_circ_0001879 and hsa_circ_0004104 compared to control	[151]
8OHdG	Lung cancer patients	Blood	↑ 8OHdG compared to healthy control	[152]
	Prostate cancer patients		↑ 8OHdG in high-risk patients	[153]
MDA, GSSG, GSH, TAC	Breast cancer patients		↑ MDA, ↑ GSSG, ↓ GSH, ↓ TAC, ↓ GSH/GSSG ratio compared to control	[154]
Diacron’s reactive oxygen metabolites and total thiol level	Colorectal cancer patients		↑ Diacron’s reactive oxygen metabolites, ↓ total thiol level	[155]
MtDNA copy number	Acute lymphoblastic leukaemia patients		↑ mtDNA copy number, ↑ mitochondrial deletion ratios, ↓ mtDNA copy number after chemotherapy compared to controls	[156]
TOM34 and HSP90AA1	Hepatocellular carcinoma patients	Serum	↑ TOM34, ↑ HSP90AA1 compared to cirrhotic patients	[157]

↑ Increased

↓ Decreased

Abbreviation: mtDNA mitochondrial DNA, PSEN1 presenilin 1, ApoE apolipoprotein E, GSH glutathione, GSSG glutathione disulphide, ATP adenosine triphosphate, Aβ42 the 42 amino acid form of amyloid-β, APP amyloid-β precursor protein, BACE1 β-secretase 1, DJ1 parkin-associated protein involved with oxidative stress, ROS reactive oxygen species, SOD superoxide dismutase, MDA malondialdehyde, ApoC3 apolipoprotein C3, 8OHdG 8-hydroxy-2′–deoxyguanosine, TAC total antioxidant capacity, TOM34 34-kDa translocase of the outer mitochondrial membrane, HSP90AA1 heat shock protein 90 alpha family class A member 1