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Molecular and Cellular Biochemistry

, Volume 426, Issue 1–2, pp 205–213 | Cite as

Oxygen exchange and energy metabolism in erythrocytes of Rett syndrome and their relationships with respiratory alterations

  • Chiara CiaccioEmail author
  • Donato Di Pierro
  • Diego Sbardella
  • Grazia Raffaella Tundo
  • Paolo Curatolo
  • Cinzia Galasso
  • Marta Elena Santarone
  • Maurizio Casasco
  • Paola Cozza
  • Alessio Cortelazzo
  • Marcello Rossi
  • Claudio De Felice
  • Joussef Hayek
  • Massimo Coletta
  • Stefano Marini
Article

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 O2 exchange 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.

Keywords

Rett syndrome Erythrocytes Oxidative stress Hemoglobin Oxygen affinity Energy metabolism 

Abbreviations

RTT

Rett syndrome

RBC

Red blood cell

Hb

Hemoglobin

OS

Oxidative stress

NPBI

Plasmatic non-protein-bound iron

Met-Hb

Methemoglobin

CO-Hb

Carboxyhemoglobin

MDA

Malondialdehyde

ORAC

Reactive oxygen species scavenging capacity

ATP

Adenosine triphosphate

ADP

Adenosine diphosphate

AMP

Adenosine monophosphate

NAD+

Nicotinamide adenine dinucleotide

NADPH

Nicotinamide adenine dinucleotide phosphate hydrogen

NADH

Nicotinamide adenine dinucleotide hydrogen

Notes

Acknowledgements

This work has been partially supported by the Federazione Medicina Sportiva Italiana (FMSI) and Associazione ProRett Siena.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Chiara Ciaccio
    • 1
    Email author
  • Donato Di Pierro
    • 1
  • Diego Sbardella
    • 1
  • Grazia Raffaella Tundo
    • 1
  • Paolo Curatolo
    • 2
  • Cinzia Galasso
    • 2
  • Marta Elena Santarone
    • 2
  • Maurizio Casasco
    • 3
  • Paola Cozza
    • 1
  • Alessio Cortelazzo
    • 4
  • Marcello Rossi
    • 5
  • Claudio De Felice
    • 6
  • Joussef Hayek
    • 7
  • Massimo Coletta
    • 1
  • Stefano Marini
    • 1
  1. 1.Department of Clinical Sciences and Translational MedicineUniversity of Roma Tor VergataRomeItaly
  2. 2.Department of Systems MedicineUniversity Hospital of Rome Tor VergataRomeItaly
  3. 3.Federazione Medico Sportiva ItalianaRomeItaly
  4. 4.Department of Medical BiotechnologiesUniversity of SienaSienaItaly
  5. 5.Respiratory Pathophysiology and Rehabilitation UnitUniversity Hospital, AOUSSienaItaly
  6. 6.Neonatal Intensive Care UnitUniversity Hospital, AOUSSienaItaly
  7. 7.Child Neuropsychiatry UnitUniversity Hospital, AOUSSienaItaly

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