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Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization

  • Lucia Ciccoli EMAIL logo , Claudio De Felice EMAIL logo , Silvia Leoncini , Cinzia Signorini , Alessio Cortelazzo , Gloria Zollo , Alessandra Pecorelli , Marcello Rossi and Joussef Hayek
From the journal Biological Chemistry


In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of ω-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a ‘model’ condition for autism spectrum disorders.

Corresponding authors: Lucia Ciccoli, Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 2, I-53100 Siena, Italy, e-mail: ; and Claudio De Felice, Neonatal Intensive Care Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, I-53100 Siena, Italy, e-mail:


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Received: 2015-1-30
Accepted: 2015-5-7
Published Online: 2015-6-3
Published in Print: 2015-11-1

©2015 by De Gruyter

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