Hostname: page-component-586b7cd67f-t8hqh Total loading time: 0 Render date: 2024-11-22T08:23:21.908Z Has data issue: false hasContentIssue false
  • English
  • Français

Down's Syndrome, Dementia, and Superoxide Dismutase

Published online by Cambridge University Press:  02 January 2018

M. J. Dickinson  and
I. Singh
M. J. Dickinson*
Affiliation:
Pyschiatry of Mental Handicap, Leavesden Hospital, Abbots Langley, Herts WD5 0NU
I. Singh
Affiliation:
Psychiatry of Mental Handicap, Leavesden Hospital, Abbots Langley, Herts WD5 0NU, and Hillingdon Hospital, Field Heath Road, Hillingdon
*
∗Correspondence
Get access Rights & Permissions [Opens in a new window]

Extract

Mental handicap includes specific behavioural phenotypes apparently caused by single enzyme errors or deletions, for example, compulsive self-mutilation and hypoxanthine-guanine phosphoribosyl transferase deficiency in the Lesch-Nyham syndrome. In Down's syndrome, the possession of additional genetic material is found to be linked to various physical abnormalities (premature cataract formation and hypothyroidism). These close associations between types of behaviour, illnesses, and known genetic abnormalities offer promising avenues for research. In this article we concentrate on the well known link between Down's syndrome and presenile dementia.

Type
Point of View
Information
The British Journal of Psychiatry , Volume 162 , Issue 6 , June 1993 , pp. 811 - 817
Copyright
Copyright © The Royal College of Psychiatrists 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Abe, H. & Orita, M. (1990) Age related changes of the erythrocyte membrane in the senescence-accelerated mouse. Mechanisms of Ageing and Development, 51, 215–222.Google Scholar
Akin, K. (1988) Macrocytosis and leukopenia in Down's syndrome. Journal of the American Medical Association, 259, 842.Google Scholar
Annernan, G., Gardner, A. & Lundin, T. (1986) Increased glutathione peroxidase activity in erythrocytes in patients with Alzheimer's disease/senile dementia of the Alzheimer's type. Acta Neurologica Scandinavica, 73, 586–589.Google Scholar
Anneren, G., Gebre-Medhin, M. & Gustavson, K. H. (1989) Increased plasma and erythrocyte selenium concentrations but decreased erythrocyte glutathione peroxidase activity after selenium supplementation in children with Down's syndrome. Acta Paediatrica Scandinavica, 78, 879–884.Google Scholar
Aoki, K., Washimi, Y., Fujimori, N., et al (1990) Familial idiopathic vitamin E deficiency associated with cerebellar atrophy. Rinsho-Shineigaku, 30, 966–971.Google Scholar
Aruoma, O. I. & Halliwell, B. (1987) Superoxide dependent and ascorbate dependent formation of hydroxyl radicals from hydrogen peroxide in the presence of iron. Biochemical Journal, 241, 273–278.Google Scholar
Balazs, R. & Brooksbank, B. W. L. (1985) Neurochemical approaches to the pathogenesis of Down's syndrome. Journal of Mental Deficiency Research, 29, 1–14.Google Scholar
Bekyarova, G., Kozarev, I. & Yankova, T. (1989) Dependence between the free radical peroxidation, the activity of superoxide dismutase, glucose 6 phosphate dehydrogenase, and erythrocytes' haemolysis after thermal trauma and alpha tocopherol treatment. Acta Physiologica et Pharmacologica Bulgaria, 15, 68–73.Google Scholar
Berr, C., Borghi, E., Rethore, M. O., et al (1989) Absence of familial association between dementia of Alzheimer type and Down's syndrome. American Journal of Medical Genetics, 33, 545–550.Google Scholar
Bindoli, A., Valente, M. & Cavallini, L. (1985) Inhibition of lipid peroxidation by alpha-tocopherolquinone and alphatocopherolhydroquinone. Biochemistry International, 10, 753–761.Google Scholar
Bras, A., Monteiro, C. & Rueff, J. (1989) Oxidative stress in trisomy 21. A possible role in cataractogenesis. Opthalmic Paediatrics and Genetics, 10, 271–277.Google Scholar
Brooksbank, B. W. L. & Balazs, R. (1984). Superoxide dismutase, glutathione peroxidase, and lipoperoxidation in Down's syndrome fetal brain. Developmental Brain Research, 16, 37–44.Google Scholar
Burns, A. & Holland, T. (1986) Vitamin E deficiency. Lancet, i, 805–806.Google Scholar
Clausen, J. (1984) Demential syndromes and lipid metabolism. Acta Neurologica Scandinavica, 70, 345–355.Google Scholar
Colombo, M. L., Giardo, E., Incarbone, E., et al (1989) Vitamin C in children with trisomy 21. Minerva Paediatrica, 41, 189–192.Google Scholar
Crapper McLachlan, D. R., Dalton, A. J., Kruck, T. P. A., et al (1991) Intramuscular desferrioxcamine in patients with Alzheimer's disease. Lancet, 337, 1304–1308.Google Scholar
Das, D. K. & Essman, W. B. (1990) Oxygen Radicals: Systematic Events and Disease Processes. Basel: Karger Press.Google Scholar
Deary, I. J. & Whalley, L. J. (1988) Recent research on the causes of Alzheimer's disease. British Medical Journal, 297, 807–810.Google Scholar
DeFeudis, F. V. (1989) Novel therapy for Alzheimer's disease. Neurobiology of Ageing, 10, 467–468, discussion 477–478.Google Scholar
Delacourte, A., Defossez, A., Ceballos, I., et al (1988) Preferential localisation of copper zinc superoxide dismutase in the vulnerable cortical neurones in Alzheimer's disease. Neuroscience Utters, 92, 247–253.Google Scholar
DeVito, M. J. & Wagner, G. C. (1989) Mephamphetamineinduced neuronal damage: a possible role for free radicals. Neuropharmacology, 28, 1145–1150.Google Scholar
Elroy-Stein, O. & Gromer, Y. (1988) Impaired neurotransmitter uptake in PC12 cells overexpressing human Cu/Zn superoxide dismutase - implication for gene dosage effects in Down's syndrome. Cell, 52, 259–267.Google Scholar
Gromadzinska, J., Wasowicz, W., Sklodowska, M., et al (1988) Glutathione peroxidase activity, lipid peroxides and selenium status in blood in patients with Down's syndrome. Journal of Clinical Chemistry and Clinical Biochemistry, 26, 255–258.Google Scholar
Halliwell, B. (1989) Oxidants and the central nervous system: some fundamental questions. Is oxidant damage relevant to Parkinson's disease, Alzheimer's disease, traumatic injury or stroke? Acta Neurologica Scandinavica (suppl.), 126, 23–33.Google Scholar
Harris, C. M. & Stone, W. L. (1988) The effects of in vitro lipid peroxidation on the activity of rat liver microsomal glutathione S-transferase from rats supplemented or deficient in antioxidants. Life Sciences, 42, 415–420.Google Scholar
Henderson, A. S. (1988) The risk factors for Alzheimer's disease: a review and a hypothesis. Acta Psychiatrica Scandinavica, 78, 257–275.Google Scholar
Hershko, C., Link, G. & Pinson, A. (1987) Modification of iron uptake and lipid peroxidation by hypoxia, ascorbic acid, and alpha tocopherol in iron loaded rat myocardial cell cultures. Journal of Laboratory and Clinical Medicine, 110, 355–361.Google Scholar
Hewitt, K. E., Carter, G. & Jancar, J. (1985) Ageing in Down's syndrome. British Journal of Psychiatry, 147, 58–62.Google Scholar
Hoffbrand, A. V. & Lewis, S. M. (1981) Postgraduate Haematology (2nd edn). London: William Heinemann Medical Books Ltd.Google Scholar
Ishiura, S. (1991) Proteolytic cleavage of the Alzheimer's disease amyloid A4 precursor protein. Journal of Neurochemistry, 56, 363–369.Google Scholar
Jackson, C. V., Holland, A. J., Williams, C. A., et al (1988) Vitamin E and Alzheimer's disease in subjects with Down's syndrome. Journal of Mental Deficiency Research, 32, 479–484.Google Scholar
Jain, S. K., Ross, J. D., Levy, G. J., et al (1986) The accumulation of malonyldialdehyde, an end product of membrane lipid peroxidation, can cause potassium leak in normal and sickle red blood cells. Biochemical Medicine and Metabolic Biology, 42, 60–65.Google Scholar
Joshi, J. G. (1991) Neurochemical hypothesis: participation by aluminium in producing critical mass of colocalized errors in brain leads to neurological disease. Comparative Biochemistry and Physiology C, 100, 103–105.Google Scholar
Kedziora, J., Koter, M., Bartel, H., et al (1981) Ultrastructural modifications of the erythrocyte membrane in Down's syndrome. Acta Biologica et Medica Germanica, 40, 423–428.Google Scholar
Kedziora, J., Bartosz, G., Gromadzinska, J., et al (1986) Lipid peroxides in blood plasma and enzymatic antioxidant defence of erythrocytes in Down's syndrome. Clinica Chimica Acta, 154, 191–194.Google Scholar
Kesslak, J. P., Cotman, C. W., Chui, H. C., et al (1988) Olfactory tests as possible probes for detecting and monitoring Alzheimer's disease. Neurobiology of Ageing, 9, 399–403.Google Scholar
Konz, K. H., Haap, M., Hill, K. E., et al (1989) Diastolic dysfunction of perfused rat hearts induced by hydrogen peroxide. Journal of Molecular and Cellular Cardiology, 21, 789–795.Google Scholar
Lai, F. & Williams, R. S. (1989) A prospective study of Alzheimer's disease in Down's syndrome. Archives of Neurology, 46, 849–853.Google Scholar
Lansdall Welfare, R. W. & Hewitt, K. E. (1986) Macrocytosis and cognitive decline in Down's syndrome. British Journal of Psychiatry, 148, 482–483.Google Scholar
Levander, O. A., Morris, V. C. & Ferretti, R. J. (1978) Effects of vitamin E deficiency and lead toxicity on the filterability of rat erythrocytes. In The Red Cell (ed. Brewer, G. J.), pp. 575–590. New York: Alan R. Liss Inc.Google Scholar
Liebler, D. C., Kling, D. S. & Reed, D. J. (1986) Antioxidant protection of phospholipid bilayers by alpha tocopherol. Journal of Biological Chemistry, 261, 12114–12119.Google Scholar
Magnani, M., Stocchi, V., Novelli, G., et al (1987) Red blood cell glucose metabolism in Down's syndrome. Clinical Physiology and Biochemistry, 5, 9–14.Google Scholar
Mandal, S. K. & Ray, A. K. (1987) Vitamin C status of elderly patients on admission into an assessment geriatric ward. Journal of International Medical Research, 15, 96–98.Google Scholar
Marklund, S. L., Adolfson, R., Gottfries, C. G., et al (1985) Superoxide dismutase isoenzymes in normal brains and in brains from patients with dementia of the Alzheimer type. Journal of the Neurological Sciences, 67, 319–325.Google Scholar
McCay, P. B. (1985) Vitamin E: interactions with free radicals and ascorbate. Annual Review of Nutrition, 5, 323–340.Google Scholar
McKenney, J., Valeri, C. R., Mohandas, N., et al (1990) Decreased in vivo survival of hydrogen peroxide-damaged baboon red blood cells. Blood, 76, 206–211.CrossRefGoogle ScholarPubMed
Muller, D. P. & Goss-Sampson, M. A. (1990) Neurochemical, neurophysiological, and neuropathological studies in vitamin E deficiency. Critical Reviews in Neurobiology, 5, 239–263.Google Scholar
Muller, D. P. R., Metcalfe, T. & Bowen, D. M. (1986) Vitamin E in brains of patients with Alzheimer's disease and Down's syndrome. Lancet, i, 1093–1094.Google Scholar
Neve, J., Vertongen, F., Cauchie, P., et al (1984) Selenium and glutathione peroxidase in plasma and erythrocytes of Down's syndrome (trisomy 21) patients. Journal of Mental Deficiency Research, 28, 261–268.Google Scholar
Nordmann, R. (1987) Oxidative stress from alcohol in the brain. Alcohol-Alcohol (suppl. 1), 75–82.Google Scholar
Oliver, C. & Holland, A. J. (1986) Down's syndrome and Alzheimer's disease: a review. Psychological Medicine, 16, 307–322.Google Scholar
Petukhov, E. B., Filimonov, M. I., Aleksandrova, N. P., et al (1990) Lipid peroxidation and disorders of erythrocyte properties in patients with mechanical jaundice. Khirurgiia-Mosk, 1, 27–30.Google Scholar
Pigeolet, E., Corbisier, P., Houbion, A., et al (1990) Glutathione peroxidase, superoxide dismutase, and catalase inactivation by peroxides and oxygen derived free radicals. Mechanisms of Ageing and Development, 51, 283–297.Google Scholar
Pratt, O. E., Rooprai, H. K., Shaw, G. K., et al (1990) The genesis of alcoholic brain tissue injury. Alcohol and Alcoholism, 25, 217–230.Google Scholar
Rosin, J., Bartosz, G. & Wronska-Nofer, T. (1988) Studies on the effect of ethanol and/or toluene on rat erythrocytes. Journal of Applied Toxicology, 8, 369–372.Google Scholar
Schwaiger, H., Weirich, H. G., Brunner, P., et al (1989) Radiation sensitivity of Down's syndrome fibroblasts might be due to overexpressed Cu/Zn superoxide dismutase. European Journal of Cell Biology, 48, 79–87.Google Scholar
Scott, M. D., Eaton, J. W., Kuypers, F. A., et al (1989) Enhancement of erythrocyte superoxide dismutase activity: effects on cellular oxidant defence. Blood, 74, 2542–2549.Google Scholar
Shaw, S. & Jayatilleke, E. (1990) Ethanol-induced iron mobilisation: role of acetaldehyde-akkhyde oxidase generated superoxide. Free Radical Biology and Medicine, 9, 11–17.Google Scholar
Sinclair, A. J., Barnett, A. H. & Lunec, J. (1990) Free radicals and antioxidant systems in health and disease. British Journal of Hospital Medicine, 43, 334–344.Google Scholar
Sinet, P. M., Lejeune, J. & Jerome, H. (1979) Trisomy 21 (Down's syndrome), glutathione peroxidase, hexose monophosphate shunt, and IQ. Life Sciences, 24, 29–34.Google Scholar
Sinet, P. M., Michelson, A. M., Bazin, A., et al (1975) Increase in glutathione peroxidase activity in erythrocytes from trisomy 21 subjects. Biochemical and Biophysical Research Communications, 67, 910–915.Google Scholar
Stoklasova, A. (1989) Defence against the toxic action of oxygen. Sbornik Vedectrych Praci Lekarske Fakulty Karlovy University v Hradci Kralove, 32, 157–168.Google Scholar
Sullivan, J. L. (1991) Antioxidants and coronary heart disease. Lancet, 337, 432–433.Google Scholar
Toro, Taryn (1991) Selenium's role in thyroid found. New Scientist, 1753, 27.Google Scholar
Tayarani, I., Cloez, I., Clement, M., et al (1989) Antioxidant enzymes and related trace elements in ageing brain capillaries and choroid plexus. Journal of Neurochemistry, 53, 817–824.Google Scholar
Toyoda, H., Himeno, S. & Imura, N. (1989) The regulation of the glutathione peroxidase gene expression relevant to species difference and the effects of dietary selenium manipulation. Biochemica et Biophysica Acta, 1008, 301–308.Google Scholar
Wachtel, T. J. & Pueschel, S. M. (1991) Macrocytosis in Down's Syndrome. American Journal of Mental Retardation, 95, 417–420.Google Scholar
Wefers, H. & Seis, H. (1988) The protection by ascorbate and glutathione against microsomal lipid peroxidation is dependent on vitamin E. European Journal of Biochemistry, 174, 353–357.Google Scholar
White, A., Handler, P., Smith, E. L., et al (1978) Principles of Biochemistry, (sixth edition). New York: McGraw-Hill.Google Scholar
Willmore, L. J. (1990) Post-traumatic epilepsy: cellular mechanisms and implications for treatment. Epilepsia, 31 (suppl. 3), S67–S73.Google Scholar
Yanker, B. A. & Marsel Mesulam, M. (1991) Beta-Amyloid and the pathogenesis of Alzheimer's disease. New England Journal of Medicine, 325, 1849–1856.Google Scholar
Zemlan, F. P., Thienhaus, O. J. & Bosmann, H. B. (1989) Superoxide dismutase activity in Alzheimer's disease: possible mechanism for paired helical filament formation. Brain Research, 476, 160–162.Google Scholar
Submit a response

eLetters

No eLetters have been published for this article.