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

By Pecorelli A., Ciccoli L., Signorini C., Leoncini S., Giardini A., D'Esposito M., Filosa S., Hayek J., De Felice C. and Valacchi G.

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

Year: 2011
OAI identifier: oai:iris.unife.it:11392/1516123
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