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RNA splicing in bone diseases: mechanisms, pathogenesis and therapeutics
Linlin Zheng1, Hui Sun2, Ning Li3
1Department of Plastic Surgery, Zibo Central Hospital, Zibo, China.
Abstract:
RNA splicing is a fundamental post-transcriptional mechanism that enables the generation of diverse mRNA isoforms from a single gene, thereby expanding proteomic complexity and regulating cell fate decisions. Emerging evidence highlights that dysregulated splicing contributes to the onset and progression of various bone-related diseases, including osteoporosis, osteoarthritis, and skeletal malignancies. In this review, we summarize current knowledge on the core mechanisms of pre-mRNA splicing, with emphasis on alternative splicing events that modulate bone cell differentiation, matrix formation, and tissue homeostasis. We further discuss how aberrant splicing impacts signaling pathways involved in bone metabolism and disease pathogenesis, and we explore the epigenetic and RNA-binding protein networks that fine-tune these processes. Finally, we examine the therapeutic potential of targeting splicing machinery or correcting mis-splicing events using small molecules, antisense oligonucleotides, and RNA-based approaches. This comprehensive overview provides mechanistic insights and highlights splicing regulation as a promising avenue for the diagnosis and treatment of skeletal disorders.
Insights
RNA splicing, a key process for generating diverse proteins, is crucial for bone health. Dysregulated splicing contributes to bone diseases, but targeting it offers new therapeutic strategies.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- RNA splicing generates mRNA diversity, impacting cell function.
- Altered RNA splicing is linked to bone diseases like osteoporosis and osteoarthritis.
- Understanding splicing is vital for skeletal health and disease.
Purpose of the Study:
- To review RNA splicing mechanisms in bone biology.
- To explore the role of aberrant splicing in skeletal disorders.
- To discuss therapeutic strategies targeting RNA splicing.
Main Methods:
- Literature review of pre-mRNA splicing mechanisms.
- Analysis of alternative splicing in bone cell differentiation.
- Examination of epigenetic and RNA-binding protein roles.
- Investigation of therapeutic approaches for splicing modulation.
Main Results:
- Alternative splicing regulates bone cell differentiation and homeostasis.
- Aberrant splicing impacts bone metabolism and disease pathways.
- Epigenetic and RNA-binding proteins fine-tune splicing in bone.
- Splicing modulation shows therapeutic potential for skeletal disorders.
Conclusions:
- RNA splicing is a critical regulator of bone health.
- Splicing dysregulation is a key factor in bone disease pathogenesis.
- Targeting RNA splicing offers promising diagnostic and therapeutic avenues for skeletal disorders.
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