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476

Parameter
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 Alzheimer's Disease Disease Subtypes /
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.

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This study was supported by the Scientific Research Innovation Capability Support Project for Young Faculty (SRICSPYF-ZY2025112), the Fundamental and Interdisciplinary Disciplines Breakthrough Plan of the Ministry of Education of China (JYB2025XDXM612)

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