title: Altered erythrocyte membrane fatty acid profile in typical Rett syndrome: effects of omega-3 polyunsaturated fatty acid supplementation.
abstract: This study mainly aims at examining the erythrocyte membrane fatty acid (FAs) profile in Rett syndrome (RTT), a genetically determined neurodevelopmental disease. Early reports suggest a beneficial effects of omega-3 polyunsaturated fatty acids (ω-3 PUFAs) on disease severity in RTT. A total of 24 RTT patients were assigned to ω-3 PUFAs-containing fish oil for 12 months in a randomized controlled study (average DHA and EPA doses of 72.9, and 117.1mg/kgb.w./day, respectively). A distinctly altered FAs profile was detectable in RTT, with deficient ω-6 PUFAs, increased saturated FAs and reduced trans 20:4 FAs. FAs changes were found to be related to redox imbalance, subclinical inflammation, and decreased bone density. Supplementation with ω-3 PUFAs led to improved ω-6/ω-3 ratio and serum plasma lipid profile, decreased PUFAs peroxidation end-products, normalization of biochemical markers of inflammation, and reduction of bone hypodensity as compared to the untreated RTT group. Our data indicate that a significant FAs abnormality is detectable in the RTT erythrocyte membranes and is partially rescued by ω-3 PUFAs.
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Via Aldo Moro, I-53100 Siena, Italy. Electronic address: cinzia.signorini@unisi.it.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Signorini
authors.affiliation: Neonatal Intensive Care Unit, University Hospital, Azienda Ospedaliera Universitaria Senese (AOUS), Policlinico S.M. alle Scotte, Viale M. Bracci 1, I-53100 Siena, Italy. Electronic address: geniente@gmail.com.
authors.forename: Claudio
authors.initials: C
authors.lastname: De Felice
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Via Aldo Moro, I-53100 Siena, Italy; Child Neuropsychiatry Unit, University Hospital (AOUS), I-53100 Siena, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Leoncini
authors.affiliation: Institut des Biomolécules Max Mousseron (IBMM), UMR 5247-CNRS, UM I, UM II, ENSCM, BP 14491 34093 Montpellier, Cedex 5, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Durand
authors.affiliation: Institut des Biomolécules Max Mousseron (IBMM), UMR 5247-CNRS, UM I, UM II, ENSCM, BP 14491 34093 Montpellier, Cedex 5, France.
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Galano
authors.affiliation: Child Neuropsychiatry Unit, University Hospital (AOUS), I-53100 Siena, Italy; Department of Medical Biotechnologies, University of Siena, I-53100 Siena, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Cortelazzo
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Via Aldo Moro, I-53100 Siena, Italy; Child Neuropsychiatry Unit, University Hospital (AOUS), I-53100 Siena, Italy.
authors.forename: Gloria
authors.initials: G
authors.lastname: Zollo
authors.affiliation: Department of Medical Biotechnologies, University of Siena, I-53100 Siena, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Guerranti
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, I-53100 Siena, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Gonnelli
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, I-53100 Siena, Italy.
authors.forename: Carla
authors.initials: C
authors.lastname: Caffarelli
authors.affiliation: Respiratory Pathophysiology and Rehabilitation Unit, University Hospital, AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Via Aldo Moro, I-53100 Siena, Italy; Child Neuropsychiatry Unit, University Hospital (AOUS), I-53100 Siena, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pecorelli
authors.affiliation: Department of Life Science and Biotechnologies, University of Ferrara, I-44121 Ferrara, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Valacchi
authors.affiliation: Department of Molecular and Developmental Medicine, University of Siena, Via Aldo Moro, I-53100 Siena, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ciccoli
authors.affiliation: Child Neuropsychiatry Unit, University Hospital (AOUS), I-53100 Siena, Italy.
authors.forename: Joussef
authors.initials: J
authors.lastname: Hayek
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D019587:Dietary Supplements; D004281:Docosahexaenoic Acids / Q000008:administration & dosage / Q000378:metabolism; D015118:Eicosapentaenoic Acid / Q000008:administration & dosage / Q000378:metabolism; D004910:Erythrocyte Membrane / Q000187:drug effects / Q000378:metabolism* / Q000473:pathology; D015525:Fatty Acids, Omega-3 / Q000008:administration & dosage* / Q000378:metabolism; D005260:Female; D006801:Humans; D007249:Inflammation / Q000378:metabolism / Q000473:pathology; D028421:Isoprostanes / Q000097:blood; D008055:Lipids / Q000097:blood; D015518:Rett Syndrome / Q000178:diet therapy / Q000378:metabolism* / Q000473:pathology
chemical_list: D015415:Biomarkers; D015525:Fatty Acids, Omega-3; D028421:Isoprostanes; D008055:Lipids; D004281:Docosahexaenoic Acids; D015118:Eicosapentaenoic Acid
keywords: Erythrocyte membrane; Inflammation; Isoprostanes; Omega-3 polyunsaturated fatty acids; Rett syndrome