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Publications

Journal Article Epublish 29 citations

PubMed: 38617564 DOI: 10.1016/j.isci.2024.109568

Unveiling the pathophysiology of restless legs syndrome through transcriptome analysis.

iScience 27(4):109568

Authors: Maria P Mogavero, Michele Salemi, Giuseppe Lanza, Antonio Rinaldi, Giovanna Marchese, Maria Ravo, Maria Grazia Salluzzo, Amedeo Antoci, Lourdes M DelRosso, Oliviero Bruni, Luigi Ferini-Strambi, Raffaele Ferri

Affiliations

  • Vita-Salute San Raffaele University, 20132 Milan, Italy.
  • San Raffaele Scientific Institute, Division of Neuroscience, Sleep Disorders Center, 20127 Milan, Italy.
  • Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • University of Catania, Department of Surgery and Medical-Surgical Specialties, 95123 Catania, Italy.
  • Genomix4Life Srl, 84081 Baronissi, Italy. Genome Research Center for Health-CRGS, 84081 Baronissi, Italy.
  • Genomix4Life Srl, 84081 Baronissi, Italy.
  • Genome Research Center for Health-CRGS, 84081 Baronissi, Italy.
  • University of California San Francisco-Fresno, Fresno, CA 93721, USA.
  • Sapienza University of Rome, Developmental and Social Psychology, 00185 Rome, Italy.

Abstract

The aim of this study was to analyze signaling pathways associated with differentially expressed messenger RNAs in people with restless legs syndrome (RLS). Seventeen RLS patients and 18 controls were enrolled. Coding RNA expression profiling of 12,857 gene transcripts by next-generation sequencing was performed. Enrichment analysis by pathfindR tool was carried-out, with p-adjusted ≤0.001 and fold-change ≥2.5. Nine main different network groups were significantly dysregulated in RLS: infections, inflammation, immunology, neurodegeneration, cancer, neurotransmission and biological, blood and metabolic mechanisms. Genetic predisposition plays a key role in RLS and evidence indicates its inflammatory nature; the high involvement of mainly neurotropic viruses and the TORCH complex might trigger inflammatory/immune reactions in genetically predisposed subjects and activate a series of biological pathways-especially IL-17, receptor potential channels, nuclear factor kappa-light-chain-enhancer of activated B cells, NOD-like receptor, mitogen-activated protein kinase, p53, mitophagy, and ferroptosis-involved in neurotransmitter mechanisms, synaptic plasticity, axon guidance, neurodegeneration, carcinogenesis, and metabolism.

MeSH

Genes, Gene Expression Profiling, Transcriptome, Restless Legs Syndrome

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