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Proteomic profiling reveals mitochondrial alterations in Rett syndrome.

Free radical biology & medicine - 1 Aug 2020

Cicaloni Vittoria, Pecorelli Alessandra, Tinti Laura, Rossi Marco, Benedusi Mascia, Cervellati Carlo, Spiga Ottavia, Santucci Annalisa, Hayek Joussef, Salvini Laura, Tinti Cristina, Valacchi Giuseppe

Abstract excerpt

Rett syndrome (RTT) is a pervasive neurodevelopmental disorder associated with mutation in MECP2 gene. Despite a well-defined genetic cause, there is a growing consensus that a metabolic component could play a pivotal role in RTT pathophysiology. Indeed, perturbed redox homeostasis and inflammation, i.e. oxinflammation, with mitochondria dysfunction as the central hub between the two phenomena, appear as possible...

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PMID: 32445864
DOI: 10.1016/j.freeradbiomed.2020.05.014

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