title: Effects of ω-3 PUFAs supplementation on myocardial function and oxidative stress markers in typical Rett syndrome.
abstract: Rett syndrome (RTT) is a devastating neurodevelopmental disorder with a 300-fold increased risk rate for sudden cardiac death. A subclinical myocardial biventricular dysfunction has been recently reported in RTT by our group and found to be associated with an enhanced oxidative stress (OS) status. Here, we tested the effects of the naturally occurring antioxidants ω-3 polyunsaturated fatty acids (ω-3 PUFAs) on echocardiographic parameters and systemic OS markers in a population of RTT patients with the typical clinical form. A total of 66 RTT girls were evaluated, half of whom being treated for 12 months with a dietary supplementation of ω-3 PUFAs at high dosage (docosahexaenoic acid ~71.9 ± 13.9 mg/kg b.w./day plus eicosapentaenoic acid ~115.5 ± 22.4 mg/kg b.w./day) versus the remaining half untreated population. Echocardiographic systolic longitudinal parameters of both ventricles, but not biventricular diastolic measures, improved following ω-3 PUFAs supplementation, with a parallel decrease in the OS markers levels. No significant changes in the examined echocardiographic parameters nor in the OS markers were detectable in the untreated RTT population. Our data indicate that ω-3 PUFAs are able to improve the biventricular myocardial systolic function in RTT and that this functional gain is partially mediated through a regulation of the redox balance.
authors: Department of Cardiology, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, Italy.
authors: Silvia
authors: 0000-0002-1900-5069
authors: S
authors: Maffei
authors: Neonatal Intensive Care Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors: Claudio
authors: C
authors: De Felice
authors: Department of Medical Biotechnologies, University of Siena, Strada delle Scotte 4, 53100 Siena, Italy.
authors: Pierpaolo
authors: 0000-0003-4126-3379
authors: P
authors: Cannarile
authors: Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 2, 53100 Siena, Italy ; Child Neuropsychiatry Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors: Silvia
authors: 0000-0002-7027-1207
authors: S
authors: Leoncini
authors: Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 2, 53100 Siena, Italy.
authors: Cinzia
authors: 0000-0003-0006-9414
authors: C
authors: Signorini
authors: Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 2, 53100 Siena, Italy ; Child Neuropsychiatry Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors: Alessandra
authors: 0000-0002-5207-068X
authors: A
authors: Pecorelli
authors: Child Neuropsychiatry Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors: Barbara
authors: B
authors: Montomoli
authors: Department of Cardiology, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, Italy.
authors: Stefano
authors: S
authors: Lunghetti
authors: Department of Molecular and Developmental Medicine, University of Siena, Via A. Moro 2, 53100 Siena, Italy.
authors: Lucia
authors: L
authors: Ciccoli
authors: Institut des Biomolécules Max Mousseron (IBMM), UMR 5247, CNRS/UM1/UM2, BP 14491 34093, Montpellier, Cedex 5, France.
authors: Thierry
authors: 0000-0002-0428-0746
authors: T
authors: Durand
authors: Department of Cardiology, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. Bracci 16, 53100 Siena, Italy.
authors: Roberto
authors: R
authors: Favilli
authors: Child Neuropsychiatry Unit, University Hospital AOUS, Viale M. Bracci 16, 53100 Siena, Italy.
authors: Joussef
authors: J
authors: Hayek
mesh_terms: D000293:Adolescent; D000975:Antioxidants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003720:Densitometry; D019587:Dietary Supplements; D004281:Docosahexaenoic Acids / Q000737:chemistry; D004452:Echocardiography; D015118:Eicosapentaenoic Acid / Q000737:chemistry; D004912:Erythrocytes / Q000166:cytology; D015525:Fatty Acids, Omega-3 / Q000627:therapeutic use*; D005260:Female; D006321:Heart / Q000187:drug effects* / Q000502:physiology; D006801:Humans; D009206:Myocardium / Q000378:metabolism; D010084:Oxidation-Reduction; D018384:Oxidative Stress; D010641:Phenotype; D015518:Rett Syndrome / Q000188:drug therapy*; D016037:Single-Blind Method
chemical_list: D000975:Antioxidants; D015525:Fatty Acids, Omega-3; D004281:Docosahexaenoic Acids; D015118:Eicosapentaenoic Acid