Increased levels of 4HNE-protein plasma adducts in Rett syndrome

Alessandra Pecorelli, Lucia Ciccoli, Cinzia Signorini, Silvia Leoncini, Anna Giardini, Maurizio D'Esposito, Stefania Filosa, Joussef Hayek, Claudio De Felice, Giuseppe Valacchi

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: Rett syndrome (RTT) is a neurological disorder and a leading cause of mental retardation in females. It is caused by mutations in methyl-CpG-binding protein 2 (MeCP2) gene and more rarely in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1) genes. Increased oxidative stress (OS) has been documented in MeCP2-RTT patients. Here, we evaluated the levels of 4-hydroxynonenal plasma protein adducts (4HNE-PAs) in MeCP2-, CDKL5-, and FOXG1-RTT and in their clinical variants. Design and methods: 4HNE-PAs were determined by Western blot in plasma from healthy subjects and RTT patients. Results: 4HNE-PAs levels were increased in MeCP2- and CDKL5-related RTT but not in FOXG1-related RTT. Conclusion: These results showed that OS is present in RTT clinical variants and could play a key role in RTT pathogenesis. Under the OS point of view FOXG1-related RTT appears to be distinct from the MeCP2/CDKL5, suggesting a distinct mechanism involved in its pathogenesis.

Original languageEnglish
Pages (from-to)368-371
Number of pages4
JournalClinical Biochemistry
Volume44
Issue number5-6
DOIs
Publication statusPublished - Apr 2011

Keywords

  • 4-Hydroxynonenal
  • CDKL5
  • FOXG1
  • MeCP2
  • Oxidative stress
  • Rett syndrome

ASJC Scopus subject areas

  • Clinical Biochemistry

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