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AlzGene database: Potential genes related to AD

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1. Genetic analysis can improve the differential diagnosis of neurodegenerative dementias.

2. GWAS/ next generation sequencing may improve the prevention and treatment of AD.

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Potential risk factor genes include clusterin (CLU), complement receptor 1 (CR1).

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Denaturing gradient gel electrophoresis (DGGE)

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Denaturing gradient gel electrophoresis (DGGE)

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Rapid mutation detection based on mobility DNA in polyacrylamide gel loaded with increasing concentrations of denaturing chemicals.

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Restriction Fragment Length Polymorphism (RFLP)

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Restriction Fragment Length Polymorphism (RFLP)

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Mutation detection method based on recognition of a specific cleavage site. Can be used for genetic mapping and linkage analysis.

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Single-nucleotide polymorphism - variation in nucleotide at a specific position in the genome.
E.g: Single base mutation in APOE gene associated with higher risk of AD.

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APOE - Cholesterol carrier (Brain). Involved in neuronal maintenance and repair/ clearance of Abeta.

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The Apolipoprotein E (APOE) E4 allele*
Genotyping analysis: Allele/ genotype frequency compared using Chi-square and Fisher's exact tests.
*Higher frequency found among AD patients.

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1. Establishing an understanding of the complete genetic mechanisms of AD.

2. Finding the potential genes involved in AD progression - an essential step in molecular diagnosis.

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Used to monitor mutations in AD risk factor genes. DNA extracted and amplified by primers designed for genes:
- APP, PSEN1, PSEN2, and APOE

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The Alzheimer Research Forum, a dynamic online scientific knowledge base, reports on the latest Alzheimer's scientific research and develops databases of genes, scientific articles, animal models, antibodies, medications, grants, research jobs, and more.

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Identified via linkage analysis.
- Highly homologous (67%) and may be involved in the onset of AD.
- Missense mutations in PSEN1 increase Abeta production.

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1.     Amyloid precursor protein(APP).

2.     Presenilin 1 (PSEN1)

3.     Presenilin 2 (PSEN2).

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Bagyinszky et al, 2014. The genetics of Alzheimer’s disease. Clinical Interventions in Aging. 9(1), pp. 535 - 51.