Abstract
The investigation of parameters that might influence the neurological evolution of
Rett syndrome might also yield new information about its pathogenic mechanisms. Oxidative
stress caused by oxygen free radicals is involved in the neuropathology of several
neurodegenerative disorders, as well as in stroke and seizures. To evaluate the free
radical metabolism in Rett syndrome, we measured red blood cell antioxidant enzyme
activities (superoxide dismutase, glutathione peroxidase, glutathione reductase and
catalase) and plasma malondialdehyde, as lipid peroxidation marker in a group of patients
with Rett syndrome. No significant differences were observed in erythrocyte glutathione
peroxidase, glutathione reductase and catalase activities, between the Rett syndrome
patients and the control group. Erythrocyte superoxide dismutase activities were significantly
decreased in Rett syndrome patients (P<0.001) compared with the control group. Plasma malondialdehyde concentrations were
significantly increased in Rett syndrome patients (P<0.001). An unbalanced nutritional status in Rett syndrome might explain the reduced
enzyme activity found in these patients. Our results suggest that free radicals generated
from oxidation reactions might contribute to the pathogenesis of Rett syndrome. The
high levels of malondialdehyde reflect peroxidative damage of biomembranes that may
contribute to progressive dementia, impaired motor function, behavioural changes,
and seizures, in Rett syndrome. We found a probable relationship between the degree
of oxidative stress and the severity of symptoms, which should be further investigated
with a larger number of patients in different disease stages.
Keywords
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References
- Veber ein cerebral-atrophiscehes Syndrom bei Hyperammonämie. Viena, Brüder Hollinek1966: 1-68
- Rett syndrome: clinical peculiarities, diagnostic approach, and possible cause. Review article.Pediatr Neurol. 1989; 5: 75-83
- Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21.J Neuropathol Exp Neurol. 1998; 57: 1013-1017
- Rett's syndrome: prevalence and impact on progressive severe mental retardation.Acta Pediatr Scand. 1985; 74: 405-408
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CPG-binding protein 2.Nature Genet. 1999; 23: 185-188
- Oxidative stress, glutamate, and neurodegenerative disorders.Science. 1993; 262: 689-695
- Elevated CSF glutamate in Rett syndrome.Neuropediatrics. 1992; 23: 212-213
- Reduced concentrations of ascorbic acid and glutathione in a single case of Rett syndrome: a postmortem brain study.Brain Dev. 1987; 9: 529-531
- Diagnostic criteria for Rett syndrome.Ann Neurol. 1988; 23: 425-428
- Rett syndrome: a suggested staging system for described impairment profile with increasing age towards adolescence.Am J Med Genet. 1986; 24: 47-49
- Rett syndrome in Spain: mutation analysis and clinical corrections.Brain Dev. 2001; (in press)
- Antioxidant status in hyperphenylalaninemia.Clin Chim Acta. 1998; 276: 1-9
- Nonchromatographic assay for malondialdehyde-Thiobarbituric acid adduct with HPLC equivalence.Clin Chem. 1997; 43: 1655-1657
- Biology of disease. Free radicals and tissue injury.Lab Invest. 1982; 47: 412-426
- Oxidative stress: from basic research to clinical application.Am J Med. 1991; 91: 31-39
- Assay for lipid peroxides in animal tissues by thiobarbituric acid reaction.Anal Biochem. 1979; 9: 351-358
- Malondialdehyde determination as index of lipid peroxidation.Methods Enzymol. 1990; 186: 421-431
- Nutritional influences on cellular antioxidant defence systems.Am J Clin Nutr. 1979; 32: 1066-1081
- Antioxidant status in anorexia nervosa.Int J Eat Dis. 1999; 25: 99-103
- Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome.J Pediatr Gastroenterol Nutr. 1999; 29: 31-37
- Feeding ability in Rett syndrome.Dev Med Child Neurol. 1997; 39: 331-335
- Altered energy balance may account for growth failure in Rett syndrome.J Child Neurol. 1994; 9: 315-319
- Could oxidative stress be a factor in neurodevelopmental disorders?.Prostaglandins Leukot Essent Fatty Acids. 2000; 63: 61-63
- Oxidative stress and antioxidants in epilepsy.Clin Chim Acta. 2001; 303: 19-24
- Free radicals, anticonvulsants, and the neuronal ceroid-lipofuscinoses.Am J Med Genet. 1995; 57: 225-228
- Vitamin E serum levels in Rett syndrome.J Neurol Sci. 1998; 156: 227-230
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© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
