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Updated: Jul 30, 2025

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

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Genome-wide analysis of RNA-binding proteins co-expression with alternative splicing events in mitral valve prolapse

Meng Zhao1, Jingxin Zhou1, Yihu Tang1

  • 1First Affiliated Hospital, Nanjing Medical University, Nanjing, Jiangsu, China.

Frontiers in Immunology
|May 14, 2023
PubMed
Abstract

Insights

Dysregulated RNA-binding proteins (RBPs) and regulated alternative splicing events (RASEs) are implicated in mitral valve prolapse (MVP) pathogenesis. These molecular mechanisms may offer future therapeutic targets for MVP treatment.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiovascular Research

Background:

  • Mitral valve prolapse (MVP) is a common cardiac condition with complex underlying molecular mechanisms.
  • Understanding the role of RNA-binding proteins (RBPs) and alternative splicing in MVP pathogenesis is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the involvement of RBPs and regulated alternative splicing events (RASEs) in the molecular mechanisms of mitral valve prolapse (MVP).
  • To identify potential therapeutic targets for MVP based on dysregulated RBPs and RASEs.

Main Methods:

  • RNA sequencing (RNA-seq) was performed on peripheral blood mononuclear cells (PBMCs) from MVP patients and healthy controls.
  • Analyses included differential gene expression, alternative splicing events (ASEs), functional enrichment (GO, KEGG), and co-expression of RBPs and RASEs.
  • Selected RBPs and RASEs were validated using reverse transcription-quantitative polymerase chain reaction (RT-qPCR).

Main Results:

  • MVP patients exhibited distinct patterns of gene expression, with 306 up-regulated and 198 down-regulated genes.
  • A significant number of RASEs (2,288) were identified as differentially expressed in MVP.
  • Four key RBPs and four specific RASEs (e.g., DEDD2 ES, ETV6 A3SS) were identified and validated, showing high consistency with RNA-seq data.

Conclusions:

  • Dysregulation of specific RBPs and their associated RASEs plays a significant role in the development of MVP.
  • These identified molecular players represent potential therapeutic targets for future MVP interventions.
Keywords:
RNA sequencingRNA-binding proteinalternative splicinggenome-wide analysismitral valve prolapse

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