| Biomarker | Syt-1 | Full name | Synaptotagmin-1 | 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, Western Blot) | ||
| Pathobiological Mechanisms | A synaptic vesicle membrane protein that regulates neurotransmitter release, released into CSF after synaptic injury. | ||||
| Clinical Availability Status | Research exploration: CSF levels are significantly elevated in AD dementia patients, distinguishing AD from other dementias. | ||||
| Notes and Dynamics | Correlated with reduced synaptic density, not yet used in routine clinical testing. | ||||
| Biomarker | GAP-43 | Full name | Growth-Associated Protein 43 | Molecular Type | Protein |
| 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 | CSF (SIMOA, Immunoassay) | ||
| Pathobiological Mechanisms | A protein related to axonal regeneration and synaptic plasticity, released after synaptic injury, reflecting synaptic repair capacity. | ||||
| Clinical Availability Status | Research application: CSF levels in MCI patients progressing to AD are significantly higher than those in stable MCI. | ||||
| Notes and Dynamics | Positively correlated with Aβ-related tau accumulation, can be used as an indicator to assess AD progression rate. | ||||
| Biomarker | SNAP-25 | Full name | Synaptosomal-Associated Protein 25 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Early Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA, Mass Spectrometry) | ||
| Pathobiological Mechanisms | A key protein of the SNARE complex for synaptic vesicle fusion, released into CSF/plasma after synaptic injury, reflecting synaptic degeneration. | ||||
| Clinical Availability Status | Research validation: Elevated in the preclinical AD stage, positively correlated with Aβ pathology. | ||||
| Notes and Dynamics | Elevated in cognitively normal individuals with Aβ positivity, serving as an early sensitive indicator of synaptic degeneration. | ||||
| Biomarker | APOE ε4 | Full name | Apolipoprotein E ε4 | Molecular Type | Nucleic Acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Susceptibility |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Genotyping) | ||
| Pathobiological Mechanisms | Affects lipid metabolism, particularly associated with reduced Aβ clearance efficiency; carriers have an increased risk and earlier timing of Aβ deposition. | ||||
| Clinical Availability Status | Clinically available (risk assessment): Routine genetic testing is available, but only for risk assessment, not diagnosis. Involves important ethical issues. | ||||
| Notes and Dynamics | A core variable for establishing risk stratification models; also an important stratification factor in therapeutic trials. | ||||
| Biomarker | KLF4 Mut | Full name | KLF4 Gene Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Meningioma | Disease Subtypes | WHO Grade I, Secretory Subtype | ||
| Organ | Brain, Meninges | Test Sample / Technology Platform | Tumor Tissue (NGS, Immunohistochemistry) | ||
| Pathobiological Mechanisms | Transcription factor mutation, co-occurs with TRAF7, regulates cell differentiation, and is associated with secretory subtypes. | ||||
| Clinical Availability Status | Under Clinical Validation | ||||
| Notes and Dynamics | Mainly located at the skull base, low recurrence rate, and its inhibitors can reduce tumor invasiveness. | ||||
| Biomarker | GFAP | Full name | Glial Fibrillary Acidic Protein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Susceptibility, Early Diagnosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma (SIMOA) | ||
| Pathobiological Mechanisms | A marker of astrocyte activation. In AD, it may be activated early in response to Aβ pathology. | ||||
| Clinical Availability Status | Cutting-edge research: A large body of evidence indicates changes in the pre-symptomatic stage, making it a highly promising risk warning biomarker. | ||||
| Notes and Dynamics | Highly correlated with Aβ pathology, may reflect changes in the brain earlier than p-tau. | ||||
| Biomarker | TRAF7 Mut | Full name | TRAF7 Gene Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Meningioma | Disease Subtypes | WHO Grade I, Secretory Subtype | ||
| Organ | Brain, Meninges | Test Sample / Technology Platform | Tumor Tissue (NGS, PCR) | ||
| Pathobiological Mechanisms | Encodes an E3 ubiquitin ligase, often co-mutated with AKT1/KLF4, regulates the NF-κB pathway, and is associated with a benign phenotype. | ||||
| Clinical Availability Status | Under Clinical Validation | ||||
| Notes and Dynamics | Mostly found in WHO Grade I meningiomas, 5-year survival rate ≥90%, and can be used as a biomarker for distinguishing benign subtypes. | ||||
| Biomarker | NfL | Full name | Neurofilament Light Chain | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Monitoring, Prognosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA) | ||
| Pathobiological Mechanisms | A cytoskeletal protein released after axonal injury, serving as a non-specific marker of neuronal damage. | ||||
| Clinical Availability Status | Research/clinical monitoring tool: Widely used as an efficacy monitoring indicator in clinical trials; clinically used to assess the overall progression of neurodegenerative diseases. | ||||
| Notes and Dynamics | Elevated in various diseases such as AD, MS, and ALS, used to evaluate disease activity and treatment response. | ||||
| Biomarker | p-tau (181,217,231) | Full name | Phosphorylated Tau (181,217,231) | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA, IP-MS) | ||
| Pathobiological Mechanisms | Hyperphosphorylation of tau protein leads to neurofibrillary tangles, disrupting the neuronal cytoskeleton. p-tau is a direct product of this process. | ||||
| Clinical Availability Status | Clinical validation/guideline recommendation: CSF p-tau is a core biomarker for AD diagnosis; plasma p-tau217 exhibits excellent diagnostic performance. | ||||
| Notes and Dynamics | p-tau217 has higher specificity than p-tau181 and is a star molecule of next-generation blood biomarkers. | ||||
| Biomarker | NF2 Mut | Full name | NF2 Gene Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis, Risk Stratification |
| Disease(or Constitution) | Meningioma | Disease Subtypes | WHO Grade I/II/III, Sporadic Meningioma | ||
| Organ | Brain, Meninges | Test Sample / Technology Platform | Tumor Tissue/Plasma (NGS, Sanger Sequencing) | ||
| Pathobiological Mechanisms | Tumor suppressor gene inactivation leads to Merlin protein deficiency, activates the PI3K/AKT and Hippo pathways, and promotes tumor proliferation and invasion. | ||||
| Clinical Availability Status | Clinically Available | ||||
| Notes and Dynamics | Mutations are present in approximately 60%-70% of sporadic meningiomas; mutant types have a high recurrence rate, and FAK inhibitors show therapeutic potential in clinical trials. | ||||
| Biomarker | Aβ42/40 Ratio | Full name | Amyloid β 42/40 Ratio | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Susceptibility |
| Disease(or Constitution) | Alzheimer's Disease | Disease Subtypes | Sporadic AD, Familial AD | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA, ELISA) | ||
| Pathobiological Mechanisms | Aβ42 aggregates into oligomers and plaques, leading to neurotoxicity; Aβ40 is relatively stable; a decreased ratio more reliably reflects Aβ pathology than a single indicator. | ||||
| Clinical Availability Status | Research validation/early clinical use: CSF testing has been incorporated into research standards; large-scale validation of plasma testing is ongoing. | ||||
| Notes and Dynamics | Plasma Aβ42/40 is a current hotspot for early screening and population screening, with promising clinical application prospects. | ||||
| Biomarker | Melatonin | Full name | Melatonin | Molecular Type | Hormone |
| Molecular Formula | C13H16N2O2 | Molecular Weight | 232.28 g/mol | Core Functional Dimensions | Monitoring, Prognosis |
| Disease(or Constitution) | Schizophrenia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Saliva/Plasma (ELISA, LC-MS/MS) | ||
| Pathobiological Mechanisms | Circadian rhythm disturbance; decreased secretion weakens anti-inflammatory and neuroprotective effects. | ||||
| Clinical Availability Status | Research Stage | ||||
| Notes and Dynamics | Decreased nighttime levels are associated with comorbid insomnia; exogenous supplementation can improve sleep quality. | ||||
| Biomarker | MDR1 | Full name | Multidrug Resistance Gene | Molecular Type | Nucleic acids (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Chemotherapy efficacy prediction and treatment plan guidance |
| Disease(or Constitution) | Non-Small Cell Lung Cancer | Disease Subtypes | / | ||
| Organ | Lung | Test Sample / Technology Platform | Not specified (specific technology platform not specified) | ||
| Pathobiological Mechanisms | The P-glycoprotein (P-gp) encoded by the MDR1 gene can expel chemotherapy drugs from the cell, leading to multidrug resistance in tumor cells | ||||
| Clinical Availability Status | Study validation: Used to predict chemotherapy efficacy | ||||
| Notes and Dynamics | High expression before chemotherapy suggests a high risk of resistance to chemotherapy drugs such as etoposide and paclitaxel, and poor efficacy | ||||
| Biomarker | PD-L1 | Full name | Programmed Death Ligand 1 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prediction of immunotherapy efficacy |
| Disease(or Constitution) | Small Cell Lung Cancer | Disease Subtypes | / | ||
| Organ | Lung | Test Sample / Technology Platform | Tumor tissue (specific technology platform not specified) | ||
| Pathobiological Mechanisms | PD-L1 binds to PD-1 on the surface of T cells and inhibits immune cell killing of tumor cells | ||||
| Clinical Availability Status | Study validation: predictive markers of immunotherapy efficacy | ||||
| Notes and Dynamics | The expression heterogeneity in the tumor tissues of SCLC patients was strong, with a positive expression rate of 10%-30%, and the detection platform and cutoff value standards were not unified | ||||
| Biomarker | IL-1β | Full name | Interleukin 1β | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis, Diagnosis |
| Disease(or Constitution) | Schizophrenia | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/Cerebrospinal Fluid (ELISA) | ||
| Pathobiological Mechanisms | Activates the inflammasome pathway, promotes neuronal apoptosis, and interferes with GABAergic transmission. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | CSF levels in elderly patients are positively correlated with cognitive decline. | ||||
| Biomarker | MYC family | Full name | MYC family | Molecular Type | Nucleic acids (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognostic assessment, prediction of chemotherapy efficacy |
| Disease(or Constitution) | Small Cell Lung Cancer | Disease Subtypes | / | ||
| Organ | Lung | Test Sample / Technology Platform | Not specified (specific technology platform not specified) | ||
| Pathobiological Mechanisms | Amplification of the MYC family (c-MYC, N-MYC, L-MYC) is associated with the degree of malignancy of SCLC, resulting in rapid tumor growth, early metastasis, and chemotherapy resistance | ||||
| Clinical Availability Status | Research validation / clinical translation: used to screen the beneficiary population of targeted therapy and prognosis judgment | ||||
| Notes and Dynamics | The incidence is about 20% to 40%, and the median survival of amplification-positive patients is shortened and the response to first-line chemotherapy regimens is poor | ||||