G-Quadruplexes as pathogenic drivers in neurodegenerative disorders.

Area of Science:

• Molecular Biology
• Genetics
• Neuroscience

Background:

• G-quadruplexes (G4s) are higher-order DNA and RNA secondary structures formed by guanine-rich sequences.
• These structures are prevalent in the human genome and play roles in fundamental cellular processes like transcription, splicing, and translation.
• Emerging evidence links G4s to various health and disease states, particularly neurodegeneration.

Purpose of the Study:

• To review the involvement of G-quadruplexes in major neurodegenerative disorders.
• To identify genes containing G4-forming sequences and proteins that bind to G4 structures in the context of neurological diseases.
• To discuss the diverse, and sometimes opposing, roles of G4s in the pathogenesis of neurological diseases.

Main Methods:

• Literature review summarizing existing research on G-quadruplexes in neurodegeneration.
• Analysis of genes with G4-forming sequences implicated in neurological diseases.
• Identification of proteins with high affinity for G4 structures in the context of neurodegenerative disease pathogenesis.

Main Results:

• G-quadruplexes are found in genes associated with major neurodegenerative disorders.
• Specific proteins exhibit high affinity for G4 structures, suggesting functional relevance.
• G4s can exert both protective and detrimental effects within the pathogenic cascades of neurological diseases.

Conclusions:

• G-quadruplexes represent a significant structural motif with complex roles in neurodegenerative disease pathogenesis.
• Further in vivo studies are crucial to fully elucidate the biological relevance and functional impact of G4s in neurodegeneration.
• Understanding G4s offers potential for developing novel diagnostic and therapeutic strategies for neurodegenerative diseases.