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Review
. 2025 Feb:104:102599.
doi: 10.1016/j.arr.2024.102599. Epub 2024 Nov 28.

An overview of the genes and biomarkers in Alzheimer's disease

Hari Krishnan Krishnamurthy  1 , Vasanth Jayaraman  2 , Karthik Krishna  3 , Tianhao Wang  4 , Kang Bei  5 , Chithra Changalath  6 , John J Rajasekaran  7
Affiliations
Free article
Review

An overview of the genes and biomarkers in Alzheimer's disease

Hari Krishnan Krishnamurthy et al. Ageing Res Rev. 2025 Feb.
Free article

Abstract

Alzheimer's disease (AD) is the most common type of dementia and neurodegenerative disease characterized by neurofibrillary tangles (NFTs) and amyloid plaque. Familial AD is caused by mutations in the APP, PSEN1, and PSEN2 genes and these mutations result in the early onset of the disease. Sporadic AD usually affects older adults over the age of 65 years and is, therefore classified as late-onset AD (LOAD). Several risk factors associated with LOAD including the APOE gene have been identified. Moreover, GWAS studies have identified a wide array of genes and polymorphisms that are associated with LOAD risk. Currently, the diagnosis of AD involves the evaluation of memory and personality changes, cognitive impairment, and medical and family history to rule out other diseases. Laboratory tests to assess the biomarkers in the body fluids as well as MRI, CT, and PET scans to analyze the presence of plaques and NFTs are also included in the diagnosis of AD. It is important to diagnose AD before the onset of clinical symptoms, i.e. during the preclinical stage, to delay the progression and for better management of the disease. Research has been conducted to identify biomarkers of AD in the CSF, serum, saliva, and urine during the preclinical stage. Current research has identified several biomarkers and potential biomarkers in the body fluids that enhance diagnostic accuracy. Aside from genetics, other factors such as diet, physical activity, and lifestyle factors may influence the risk of developing AD. Clinical trials are underway to find potential biomarkers, diagnostic measures, and treatments for AD mainly in the preclinical stage. This review provides an overview of the genes and biomarkers of AD.

Keywords: Alzheimer’s disease; Amyloid plaque; Biomarker; Neurofibrillary tangles; Preclinical; Preventive measures.

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Conflict of interest statement

Declaration of Competing Interest The authors have read the journal’s policy and the authors of this manuscript have the following competing interests: CC is a paid employee of Vibrant America LLC. HKK, VJ, KK, TW, KB, and JJR are paid employees of Vibrant Sciences LLC. There are no patents, products in development, or marketed products to declare. This does not alter our adherence to Ageing Research Reviews policies on sharing data and materials.

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