| Biomarker | Phosphatidylcholine (PC) | Full name | Phosphatidylcholine | Molecular Type | Lipids (phospholipids) |
| Molecular Formula | Varies by subtype (EPA: C₂₀H₃₀O₂; DHA: C₂₂H₃₂O₂; Linoleic acid: C₁₈H₃₂O₂) Varies by fatty acid chain (e.g., PC 36:3: C₄₂H₈₀NO₈P) C₃H₅(OOC-R)₃ (R = fatty acid chain, e.g., palmitic acid: C₁₆H₃₂O₂) | Molecular Weight | Varies by fatty acid chain (e.g., PC 36:3: ~758 Da) | Core Functional Dimensions | Membrane structure maintenance, lipoprotein assembly |
| Disease(or Constitution) | Metabolic Associated Fatty Liver Disease (MASLD) | Disease Subtypes | Simple fatty liver, Non-Alcoholic Steatohepatitis (NASH) | ||
| Organ | Liver | Test Sample / Technology Platform | Liver tissue (lipidomic mass spectrometry), plasma (lipidomic mass spectrometry) | ||
| Pathobiological Mechanisms | Decreased PC synthesis in liver tissue and increased plasma PC isoforms, such as PC (36:3), affect VLDL assembly and secretion | ||||
| Clinical Availability Status | Research Phase | ||||
| Notes and Dynamics | PC analogues have shown anti-steatosis effects in animal models and are of research value | ||||
| Biomarker | Polyunsaturated fatty acids (PUFA) | Full name | Polyunsaturated fatty acids (e.g., EPA, DHA, linoleic acid) | Molecular Type | Lipids (fatty acids) |
| Molecular Formula | Varies by subtype (EPA: C₂₀H₃₀O₂; DHA: C₂₂H₃₂O₂; Linoleic acid: C₁₈H₃₂O₂) | Molecular Weight | Varies by subtype (EPA: 302.46 Da; DHA: 328.50 Da; Linoleic acid: 280.45 Da) | Core Functional Dimensions | Regulation of lipid metabolism |
| Disease(or Constitution) | Metabolic Associated Fatty Liver Disease (MASLD) | Disease Subtypes | Simple fatty liver, Non-Alcoholic Steatohepatitis (NASH) | ||
| Organ | Liver | Test Sample / Technology Platform | Plasma (lipidomics mass spectrometry), Liver tissue (lipidomics mass spectrometry) | ||
| Pathobiological Mechanisms | Defects in PUFA uptake or synthesis in the liver reduce the content of PUFA in membrane phospholipids by 1-9%, destroying the structure and function of hepatocytes | ||||
| Clinical Availability Status | In the research phase, some centers carried out clinical research | ||||
| Notes and Dynamics | CK-18 (M30 fragment) is a specific biomarker reflecting hepatocyte apoptosis, which makes up for the deficiency of ALT/AST and other traditional indicators that are difficult to distinguish the types of hepatocyte injury (apoptosis/necrosis), and can indicate the occurrence and progression risk of NASH at an early stage. The detection is convenient and minimally invasive, but the current detection methods have not been fully standardized, and there are differences in the reference ranges of different laboratories. In the severe stage of liver fibrosis, the level may be false negative due to the reduction of the number of hepatocytes, which needs to be comprehensively interpreted in combination with ELF score, LSM and other indicators PUFA supplementation may have the potential to improve the lipid profile of MASLD, and relevant clinical studies are being promoted | ||||
| Biomarker | SMO Mut | Full name | SMO Gene Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prediction |
| Disease(or Constitution) | Meningioma | Disease Subtypes | WHO Grade I, Meningothelial Subtype | ||
| Organ | Brain, Meninges | Test Sample / Technology Platform | Tumor Tissue (NGS, Sequencing) | ||
| Pathobiological Mechanisms | Activates the Hedgehog pathway, drives tumorigenesis, and is associated with meningothelial subtypes. | ||||
| Clinical Availability Status | Under Clinical Validation | ||||
| Notes and Dynamics | Vismodegib (SMO inhibitor) shows treatment response in mutant patients. | ||||
| Biomarker | SV2A (PET) | Full name | Synaptic Vesicle Protein 2A (PET Imaging) | Molecular Type | Protein (Imaging Biomarker) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Disease Monitoring |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Brain ([11C] UCB-J/[18F] SynVesT-1 PET) | ||
| Pathobiological Mechanisms | A synaptic vesicle glycoprotein; PET imaging reflects synaptic density; reduced tracer binding due to synaptic loss in AD. | ||||
| Clinical Availability Status | Research application: SV2A binding rate is decreased in the hippocampus and temporal lobe of AD patients. | ||||
| Notes and Dynamics | Positively correlated with cognitive function, can intuitively assess the degree of synaptic injury. | ||||
| Biomarker | lncRNA (BACE1-AS, MALAT1) | Full name | Long Non-Coding RNA (BACE1 Antisense RNA, Metastasis-Associated Lung Adenocarcinoma Transcript 1) | Molecular Type | Non-coding RNA |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (RNA-seq, qPCR) | ||
| Pathobiological Mechanisms | BACE1-AS stabilizes BACE1 mRNA to promote Aβ production; MALAT1 regulates synaptogenesis. | ||||
| Clinical Availability Status | Research application: CSF BACE1-AS is elevated and MALAT1 is decreased in AD patients. | ||||
| Notes and Dynamics | Can be used as a target for AD pathobiological mechanism research, no clinical application yet. | ||||
| Biomarker | miR-124/miR-132/miR-455-3p | Full name | MicroRNA-124/MicroRNA-132/MicroRNA-455-3p | Molecular Type | Non-coding RNA |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Early Diagnosis/Prognosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (qPCR, RNA-seq) | ||
| Pathobiological Mechanisms | miR-124 inhibits BACE1 expression to reduce Aβ production; miR-132 regulates tau phosphorylation; miR-455-3p is associated with synaptic function. | ||||
| Clinical Availability Status | Research exploration: Plasma miR-124 is decreased and miR-455-3p is elevated in AD patients. | ||||
| Notes and Dynamics | miR-455-3p can serve as a peripheral biomarker, negatively correlated with AD cognitive function. | ||||
| Biomarker | Histone Mods (H3K9ac, H4K12ac, H3K27me3) | Full name | Histone Modifications (H3 Lysine 9 Acetylation, H4 Lysine 12 Acetylation, H3 Lysine 27 Trimethylation) | Molecular Type | Protein Modification |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Brain Biopsy/CSF (ChIP-seq, Mass Spectrometry) | ||
| Pathobiological Mechanisms | Decreased H3K9ac/H4K12ac inhibits the expression of synapse-related genes; increased H3K27me3 silences neuroprotective genes. | ||||
| Clinical Availability Status | Research application: Levels of H3K9ac/H4K12ac are decreased in AD brains. | ||||
| Notes and Dynamics | Can be used as an indicator for AD pathobiological mechanism research, not yet used for clinical diagnosis. | ||||
| Biomarker | APP/PSEN1/PSEN2 DNA Meth | Full name | Amyloid Precursor Protein/Presenilin 1/Presenilin 2 DNA Methylation | Molecular Type | Nucleic Acid Modification |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Early Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood/CSF (Bisulfite Sequencing, Methylation Microarray) | ||
| Pathobiological Mechanisms | Abnormal methylation of the promoters of APP, PSEN1, and PSEN2 genes regulates gene expression and affects Aβ production. | ||||
| Clinical Availability Status | Research exploration: APP promoter hypermethylation and PSEN1 promoter hypomethylation in AD patients | ||||
| Notes and Dynamics | Peripheral blood methylation patterns can reflect intracerebral pathology, with more significant abnormalities in familial AD. | ||||
| Biomarker | IBA-1 | Full name | Ionized Calcium-Binding Adapter Molecule 1 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Brain Biopsy/CSF (Immunohistochemistry, Immunoassay) | ||
| Pathobiological Mechanisms | A microglia-specific marker; expression increases after activation, involved in synaptic phagocytosis. | ||||
| Clinical Availability Status | Research application: IBA-1+ microglia aggregate around Aβ plaques in AD brains. | ||||
| Notes and Dynamics | Not yet used for peripheral testing, mainly as a pathological indicator in animal models and autopsy. | ||||
| Biomarker | YKL-40 | Full name | Chitinase 3-Like Protein 1 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Susceptibility Prediction |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (ELISA, Immunoassay) | ||
| Pathobiological Mechanisms | A glycoprotein secreted by activated astrocytes, reflecting neuroinflammation; levels are elevated in AD. | ||||
| Clinical Availability Status | Research exploration: Levels in AD patients are significantly higher than those in healthy individuals, positively correlated with Aβ pathology. | ||||
| Notes and Dynamics | Involved in Aβ-induced tau pathology, can assist in assessing the degree of neuroinflammation. | ||||
| Biomarker | TREM2/sTREM2 | Full name | Triggering Receptor Expressed on Myeloid Cells 2/Soluble TREM2 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (Immunoassay, Electrochemiluminescence) | ||
| Pathobiological Mechanisms | A microglial activation receptor that regulates Aβ clearance and neuroinflammation; sTREM2 is its soluble form. | ||||
| Clinical Availability Status | Cutting-edge research: CSF sTREM2 peaks in the MCI stage, showing an "inverted U" curve. | ||||
| Notes and Dynamics | Carriers of the TREM2 R47H variant have a 3-4 fold increased risk of AD, which can be explored as a therapeutic target. | ||||
| Biomarker | AD7C-NTP | Full name | Alzheimer-Associated Neuronal Thread Protein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Urine/CSF (ELISA) | ||
| Pathobiological Mechanisms | A neuronal thread protein that is specifically elevated in AD, involved in neuronal repair. | ||||
| Clinical Availability Status | Research exploration: Urine levels in MCI and AD patients are significantly higher than those in healthy individuals. | ||||
| Notes and Dynamics | Can be used as a preliminary screening tool for AD, requiring combination with other biomarkers to improve specificity. | ||||
| Biomarker | β-Syn | Full name | β-Synuclein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/CSF (SIMOA, Immunoassay) | ||
| Pathobiological Mechanisms | A protein regulating synaptic transmission; abnormal expression promotes Aβ aggregation and tau phosphorylation. | ||||
| Clinical Availability Status | Research exploration: Plasma levels are significantly elevated in Aβ-PET positive individuals. | ||||
| Notes and Dynamics | Can distinguish AD from non-AD dementias, correlated with temporal lobe atrophy. | ||||
| Biomarker | NPTX2 | Full name | Neuronal Pentraxin 2 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognostic Assessment |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (SIMOA, Immunoassay) | ||
| Pathobiological Mechanisms | A member of the neuronal pentraxin family that maintains synaptic stability; decreased expression in AD leads to synaptic vulnerability. | ||||
| Clinical Availability Status | Research application: CSF levels are decreased in AD patients, positively correlated with tau pathology progression. | ||||
| Notes and Dynamics | Can predict the risk of MCI conversion to AD; lower baseline levels indicate higher conversion risk. | ||||
| Biomarker | Ng | Full name | Neurogranin | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognostic Assessment |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma Exosomes (SIMOA, ELISA) | ||
| Pathobiological Mechanisms | A calmodulin-regulating protein in dendritic spines, involved in synaptic plasticity, released after synaptic injury, correlated with cognitive decline. | ||||
| Clinical Availability Status | Research validation: CSF levels are elevated in the prodromal AD stage, predicting the rate of cognitive decline. | ||||
| Notes and Dynamics | Closely correlated with tau pathology; higher CSF Ng levels are associated with faster memory function decline. | ||||
| Biomarker | Syp | Full name | Synaptophysin | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (ELISA, Flow Cytometry) | ||
| Pathobiological Mechanisms | An integral membrane protein of synaptic vesicles that maintains neurotransmitter release; CSF levels increase after synaptic loss. | ||||
| Clinical Availability Status | Research exploration: The proportion of microvesicles containing synaptophysin in CSF of AD patients is elevated. | ||||
| Notes and Dynamics | Related to the AD immune microenvironment, can assist in judging the degree of synaptic injury. | ||||