title: Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations.
abstract: Rett syndrome (RTT) is a neurodevelopmental disorder, mainly affecting females, which is associated to a mutation on the methyl-CpG-binding protein 2 gene. In the pathogenesis and progression of classic RTT, red blood cell (RBC) morphology has been shown to be an important biosensor for redox imbalance and chronic hypoxemia. Here we have evaluated the impact of oxidation and redox imbalance on several functional properties of RTT erythrocytes. In particular, we report for the first time a stopped-flow measurement of the kinetics of oxygen release by RBCs and the analysis of the intrinsic affinity of the hemoglobin (Hb). According to our experimental approach, RBCs from RTT patients do not show any intrinsic difference with respect to those from healthy controls neither in Hb's oxygen-binding affinity nor in O2exchange processes at 37 °C. Therefore, these factors do not contribute to the observed alteration of the respiratory function in RTT patients. Moreover, the energy metabolism of RBCs, from both RTT patients and controls, was evaluated by ion-pairing HPLC method and related to the level of malondialdehyde and to the oxidative radical scavenging capacity of red cells. Results have clearly confirmed significant alterations in antioxidant defense capability, adding important informations concerning the high-energy compound levels in RBCs of RTT subjects, underlying possible correlations with inflammatory tissue alterations.
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy. chiara.ciaccio@uniroma2.it.
authors.forename: Chiara
authors.initials: C
authors.lastname: Ciaccio
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Donato
authors.initials: D
authors.lastname: Di Pierro
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Sbardella
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Grazia Raffaella
authors.initials: GR
authors.lastname: Tundo
authors.affiliation: Department of Systems Medicine, University Hospital of Rome Tor Vergata, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
authors.affiliation: Department of Systems Medicine, University Hospital of Rome Tor Vergata, Rome, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Galasso
authors.affiliation: Department of Systems Medicine, University Hospital of Rome Tor Vergata, Rome, Italy.
authors.forename: Marta Elena
authors.initials: ME
authors.lastname: Santarone
authors.affiliation: Federazione Medico Sportiva Italiana, Rome, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Casasco
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Cozza
authors.affiliation: Department of Medical Biotechnologies, University of Siena, Siena, Italy.
authors.forename: Alessio
authors.initials: A
authors.lastname: Cortelazzo
authors.affiliation: Respiratory Pathophysiology and Rehabilitation Unit, University Hospital, AOUS, Siena, Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Rossi
authors.affiliation: Neonatal Intensive Care Unit, University Hospital, AOUS, Siena, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: De Felice
authors.affiliation: Child Neuropsychiatry Unit, University Hospital, AOUS, Siena, Italy.
authors.forename: Joussef
authors.initials: J
authors.lastname: Hayek
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Coletta
authors.affiliation: Department of Clinical Sciences and Translational Medicine, University of Roma Tor Vergata, Via Montpellier 1, 00133, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Marini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004734:Energy Metabolism; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D008315:Malondialdehyde / Q000097:blood*; D010100:Oxygen / Q000097:blood*; D010101:Oxygen Consumption; D015518:Rett Syndrome / Q000097:blood*
chemical_list: D008315:Malondialdehyde; D010100:Oxygen
keywords: Energy metabolism; Erythrocytes; Hemoglobin; Oxidative stress; Oxygen affinity; Rett syndrome