title: Increased levels of 4HNE-protein plasma adducts in Rett syndrome.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Via Aldo Moro 2, 53100 Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pecorelli
authors.forename: Lucia
authors.initials: L
authors.lastname: Ciccoli
authors.forename: Cinzia
authors.initials: C
authors.lastname: Signorini
authors.forename: Silvia
authors.initials: S
authors.lastname: Leoncini
authors.forename: Anna
authors.initials: A
authors.lastname: Giardini
authors.forename: Maurizio
authors.initials: M
authors.lastname: D'Esposito
authors.forename: Stefania
authors.initials: S
authors.lastname: Filosa
authors.forename: Joussef
authors.initials: J
authors.lastname: Hayek
authors.forename: Claudio
authors.initials: C
authors.lastname: De Felice
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Valacchi
mesh_terms: D000293:Adolescent; D000328:Adult; D000447:Aldehydes / Q000097:blood*; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D051858:Forkhead Transcription Factors / Q000235:genetics; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D015518:Rett Syndrome / Q000097:blood* / Q000473:pathology; D055815:Young Adult
chemical_list: D000447:Aldehydes; C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins; C027576:4-hydroxy-2-nonenal