Dual effect of per2 c111g polymorphism on cognitive functions across progression from subjective cognitive decline to mild cognitive impairment

Salvatore Mazzeo, Valentina Bessi, Silvia Bagnoli, Giulia Giacomucci, Juri Balestrini, Sonia Padiglioni, Giulia Tomaiuolo, Assunta Ingannato, Camilla Ferrari, Laura Bracco, Sandro Sorbi, Benedetta Nacmias

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Periodic circadian protein homolog 2 (PER2) has a role in the intracellular signaling pathways of long-term potentiation and has implications for synaptic plasticity. We aimed to assess the association of PER2 C111G polymorphism with cognitive functions in subjective cognitive decline (SCD). Methods: Forty-five SCD patients were included in this study. All participants underwent extensive neuropsychological investigation, analysis of apolipoprotein E (APOE) and PER2 genotypes, and neuropsychological follow-up every 12 or 24 months for a mean time of 9.87 ± 4.38 years. Results: Nine out of 45 patients (20%) were heterozygous carriers of the PER2 C111G polymorphism (G carriers), while 36 patients (80%) were not carriers of the G allele (G non-carriers). At baseline, G carriers had a higher language composite score compared to G non-carriers. During follow-up, 15 (34.88%) patients progressed to mild cognitive impairment (MCI). In this group, we found a significant interaction between PER2 G allele and follow-up time, as carriers of G allele showed greater worsening of executive function, visual-spatial ability, and language composite scores compared to G non-carriers. Conclusions: PER2 C111G polymorphism is associated with better language performance in SCD patients. Nevertheless, as patients progress to MCI, G allele carriers showed a greater worsening in cognitive performance compared to G non-carriers. The effect of PER2 C111G polymorphism depends on the global cognitive status of patients.

Original languageEnglish
Article number718
JournalDiagnostics
Volume11
Issue number4
DOIs
Publication statusPublished - 2021

Keywords

  • Alzheimer’s disease
  • Cognitive reserve
  • Executive function
  • Language
  • Neuropsychology
  • PER2 gene
  • Subjective cognitive decline
  • Visual–spatial ability

ASJC Scopus subject areas

  • Clinical Biochemistry

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