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Morphological changes and oxidative damage in Rett Syndrome erythrocytes
Lucia Ciccoli1, Claudio De Felice, Eugenio Paccagnini
1Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Italy. lucia.ciccoli@unisi.it
Biochimica Et Biophysica Acta
|December 21, 2011
Summary
Rett Syndrome patients show altered red blood cells (RBCs) shape due to oxidative stress and hypoxemia. Omega-3 fatty acids partially improved RBC morphology and reduced damage, highlighting RBCs as a biosensor for these conditions.
Area of Science:
- Biomedical Science
- Neuroscience
- Hematology
Background:
- Rett Syndrome (RTT) is linked to hypoxemia and oxidative stress (OS).
- Red blood cell (RBC) morphology changes are suspected but unconfirmed in RTT.
- This study investigates RBC shape in RTT patients concerning OS and oxygenation.
Purpose of the Study:
- To evaluate red blood cell (RBC) morphology in Rett Syndrome (RTT) patients.
- To correlate RBC shape with oxidative stress (OS) markers, oxygenation, and cardiopulmonary function.
- To assess the impact of ω-3 polyunsaturated fatty acids (ω-3 PUFAs) on RBC morphology and related parameters in RTT.
Main Methods:
- Scanning Electron Microscopy for RBC morphology assessment.
- Measurement of oxidative stress markers: non-protein-bound iron (NPBI), F(2)-Isoprostanes (F(2)-IsoPs), and 4-HNE protein adducts (4-HNE PAs).
- Evaluation of pulmonary gas exchange, PaO(2), and cardiopulmonary variables before and after ω-3 PUFAs administration.
Main Results:
- RTT patients exhibited abnormal RBC shapes (leptocytes) and elevated NPBI, F(2)-IsoPs, and 4-HNE PAs.
- Abnormal RBC morphology correlated with OS markers, gas exchange, PaO(2), and cardiopulmonary function.
- ω-3 PUFAs administration led to reduced leptocytes, increased reversible RBC forms, decreased OS markers, and improved oxygen exchange and cardiopulmonary function.
Conclusions:
- Rett Syndrome is characterized by altered red blood cell (RBC) shape.
- The interplay of oxidative stress and hypoxemia critically drives RBC shape abnormalities and membrane damage in RTT.
- ω-3 PUFAs demonstrate a therapeutic potential by partially restoring RBC morphology and mitigating OS-induced damage.
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