G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

Area of Science:

• Genomics
• Molecular Biology
• Neuroscience

Background:

• G-rich sequences in DNA and RNA can form stable G-quadruplex structures.
• These structures are prevalent in the human genome, affecting gene regulation and cellular functions.
• G-quadruplexes are implicated in processes like epigenetic regulation, DNA recombination, and translation.

Purpose of the Study:

• To review the occurrence and significance of G-quadruplexes in vitro and in vivo.
• To discuss the role of G-quadruplexes in neurological diseases such as frontotemporal dementia, amyotrophic lateral sclerosis, and fragile X syndrome.
• To explore the involvement of G-quadruplexes in non-coding RNA regulation and potential therapeutic strategies.

Main Methods:

• Literature review of existing research on G-quadruplexes.
• Analysis of evidence linking G-quadruplexes to specific genes and diseases.
• Synthesis of current knowledge on G-quadruplex functions and therapeutic targeting.

Main Results:

• G-quadruplexes are found in various genomic locations and are involved in diverse cellular functions.
• Specific G-quadruplex-forming repeat expansions are linked to neurodegenerative diseases.
• G-quadruplexes play a role in the processing and function of non-coding RNAs.

Conclusions:

• G-quadruplexes are critical nucleic acid structures with significant roles in genome regulation and disease pathogenesis.
• Targeting G-quadruplexes presents a promising avenue for therapeutic interventions in neurological disorders and other conditions.
• Further research is needed to fully elucidate the complex functions of G-quadruplexes and their therapeutic potential.