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Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and

Giulia Cardamone1, Elvezia M Paraboschi1, Giulia Soldà1,2

  • 1Department of Biomedical Sciences, Humanitas University, Pieve Emanuele Milan, Italy.

Human Molecular Genetics
|December 20, 2018
PubMed

Insights

Long non-coding RNA MALAT1 is upregulated in multiple sclerosis (MS), a neuroinflammatory autoimmune disease. Its modulation affects splicing of MS-associated genes, suggesting a role in MS pathogenesis.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Long non-coding RNAs (lncRNAs) are key regulators in cellular processes.
  • Their role in neurodegenerative and autoimmune diseases like multiple sclerosis (MS) is not well understood.
  • Identifying dysregulated lncRNAs in MS can offer insights into disease mechanisms.

Purpose of the Study:

  • To identify dysregulated long non-coding RNAs (lncRNAs) in multiple sclerosis (MS) using public microarray data.
  • To investigate the functional role of the identified lncRNA, MALAT1, in alternative splicing (AS) and its potential contribution to MS pathogenesis.

Main Methods:

  • Meta-analysis of publicly available microarray datasets to identify differentially expressed lncRNAs in MS.
  • Validation of MALAT1 expression in independent MS cohorts.
  • In vitro experiments involving MALAT1 overexpression and knockdown in cell lines.
  • Minigene splicing assays and RNA-sequencing to assess the impact of MALAT1 on splicing factors and MS-associated genes.

Main Results:

  • Consistent upregulation of lncRNA MALAT1 was observed in MS patients compared to controls (2.7-fold increase in meta-analysis, P = 1.3 × 10-8).
  • MALAT1 modulation affected the expression of splicing factors HNRNPF and HNRNPH1 and altered alternative splicing of MS-associated genes IL7R and SP140.
  • RNA-sequencing revealed MALAT1's significant role in regulating approximately 1100 alternative splicing events and approximately 50 circular RNAs through backsplicing.

Conclusions:

  • The lncRNA MALAT1 is consistently upregulated in multiple sclerosis (MS).
  • MALAT1 dysregulation influences alternative splicing of MS-relevant genes, indicating a potential role in MS pathogenesis.
  • Altered splicing and backsplicing profiles associated with MALAT1 may contribute to the development of MS.

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