Alternative Splicing in Alzheimer's Disease

Area of Science:

• Neuroscience
• Genetics
• Molecular Biology

Background:

• Neurodegenerative diseases involve complex genetic factors impacting pathology.
• Understanding gene expression changes is vital for elucidating disease mechanisms.
• Alzheimer's disease (AD) presents an ideal model due to candidate genes with alternative splicing.

Purpose of the Study:

• To review the role of alternative splicing in Alzheimer's disease (AD) pathology.
• To examine alternative splicing patterns of key AD-associated genes.
• To discuss therapeutic strategies targeting gene splicing in AD.

Main Methods:

• Transcriptome analysis using ribonucleic acid sequencing (RNA Seq).
• Validation through real-time quantitative polymerase chain reaction (RT-qPCR).
• Review of existing literature on alternative splicing in AD.

Main Results:

• Alternative splicing is observed in critical AD-related genes, including amyloid precursor protein (APP), TAU, and apolipoprotein E (APOE).
• These splicing variations may contribute to the disease phenotype in AD patients.
• Evidence suggests potential links between specific splicing events and AD pathology.

Conclusions:

• Alternative splicing of APP, TAU, and APOE is a significant factor in Alzheimer's disease.
• Targeting gene splicing offers a promising therapeutic avenue for AD.
• Further research into splicing modulation could lead to novel AD treatments.