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Liver X Receptor Genes Variants Modulate ALS Phenotype.

Kevin Mouzat1,2, Nicolas Molinari3, Jovana Kantar4

  • 1Laboratoire de Biochimie et Biologie Moléculaire, CHU Nîmes et Université de Montpellier, Nîmes, France. kevin.mouzat@inserm.fr.

Molecular Neurobiology
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PubMed
Summary

Genetic variations in liver X receptors (LXRs) influence amyotrophic lateral sclerosis (ALS) onset and duration. Specific LXR gene variants are linked to delayed disease onset and longer disease duration in ALS patients.

Keywords:
ALS phenotypeAmyotrophic lateral sclerosisLiver X receptorsNeurodegenerationSingle nucleotide polymorphism

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Area of Science:

  • Neuroscience
  • Genetics
  • Metabolism

Background:

  • Amyotrophic lateral sclerosis (ALS) is a severe motor neuron disorder with variable patient phenotypes.
  • Energy metabolism modulators, including liver X receptors (LXRs), are implicated in ALS progression and motor neuron survival.
  • LXRs, activated by oxysterols, regulate cholesterol levels, a potential factor in ALS severity.

Purpose of the Study:

  • To investigate the influence of liver X receptor alpha (LXRα) and beta (LXRβ) gene single nucleotide polymorphisms (SNPs) on ALS risk and clinical phenotype.
  • To determine if specific LXR gene variants are associated with age at onset or disease duration in ALS patients.

Main Methods:

  • A cohort study involving 438 ALS patients and 330 healthy controls.
  • Analysis of single nucleotide polymorphisms (SNPs) in LXRα and LXRβ genes.
  • Statistical association testing between LXR SNPs and ALS risk, age at onset, and disease duration.

Main Results:

  • Two LXRα SNPs (rs2279238 and rs7120118) were significantly associated with a delayed age at onset in ALS patients.
  • Carriers of specific LXRα genotypes showed delayed onset ranging from 2.1 to 7.8 years.
  • One LXRβ SNP (rs2695121) was associated with a 30% increase in ALS duration.
  • No tested LXR genotypes were found to be associated with overall ALS risk.

Conclusions:

  • LXR gene variants significantly impact the clinical phenotype of ALS, particularly age at onset and disease duration.
  • These findings support the role of LXR signaling in ALS pathogenesis.
  • Targeting LXR pathways may offer novel therapeutic strategies for managing ALS.