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Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis.

Elvezia M Paraboschi1, Valeria Rimoldi1, Giulia Soldà1

  • 1Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano 20133, Italy.

Human Molecular Genetics
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Summary
This summary is machine-generated.

Genetic variations in the protein kinase C alpha (PRKCA) gene are linked to multiple sclerosis (MS). Specific PRKCA gene alterations influence its expression and splicing, potentially contributing to MS susceptibility.

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Area of Science:

  • Genetics
  • Immunology
  • Neuroscience

Background:

  • The protein kinase C alpha (PRKCA) gene is associated with multiple sclerosis (MS).
  • The precise pathogenic mechanism linking PRKCA to MS remains unclear.
  • Understanding PRKCA's role is crucial for elucidating MS pathogenesis.

Purpose of the Study:

  • To investigate the association between PRKCA gene variants and MS in an Italian cohort.
  • To explore the functional impact of identified variants on PRKCA expression and splicing.
  • To elucidate the molecular mechanisms underlying PRKCA's contribution to MS susceptibility.

Main Methods:

  • Replication of PRKCA association study in an Italian population.
  • Analysis of PRKCA promoter and intron 3 variants.
  • Gene expression experiments to assess variant effects.
  • Splicing assays to evaluate exon 3* inclusion.
  • Investigation of protein localization for specific isoforms.

Main Results:

  • Replicated PRKCA association with MS, identifying a protective promoter signal and a risk haplotype in intron 3.
  • Protective alleles correlated with higher PRKCA mRNA levels, while MS patients showed lower levels.
  • The risk haplotype is driven by a GGTG insertion/deletion polymorphism affecting PRKCA alternative exon 3* splicing.
  • This polymorphism influences exon 3* inclusion and isoform selection, impacting mRNA stability.
  • Aberrant protein isoforms due to dysregulated splicing were observed to mislocalize.

Conclusions:

  • PRKCA gene variants significantly influence MS susceptibility.
  • Altered PRKCA expression and aberrant splicing of exon 3* represent potential pathogenic mechanisms in MS.
  • Dysregulated PRKCA splicing and subsequent protein mislocalization may contribute to MS pathogenesis.