Alternative splicing in Alzheimer's disease

Alzheimer's disease (AD) is the most frequent neurodegenerative disorder in the elderly, occurring in approximately 20% of people older than 80. The molecular causes of AD are still poorly understood. However, recent studies have shown that Alternative Splicing (AS) is involved in the gene expression reprogramming associated with the functional changes observed in AD patients. In particular, mutations in cis-acting regulatory sequences as well as alterations in the activity and sub-cellular localization of trans-acting splicing factors and components of the spliceosome machinery are associated with splicing abnormalities in AD tissues, which may influence the onset and progression of the disease. In this review, we discuss the current molecular understanding of how alterations in the AS process contribute to AD pathogenesis. Finally, recent therapeutic approaches targeting aberrant AS regulation in AD are also reviewed.

Automated summary

Alzheimer's disease is the most common neurodegenerative disorder in the elderly, with approximately 20% of people over 80 affected. Recent studies have shown that Alternative Splicing is involved in gene expression reprogramming and splicing abnormalities in AD tissues. While the molecular causes of AD are still poorly understood, therapeutic approaches targeting aberrant AS regulation offer potential new treatments.