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Pilot Studies on Membranes and some Transport Mechanisms in Friedreich's Ataxia

Published online by Cambridge University Press:  18 September 2015

A. Filla
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
R. F. Butter Worth
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
A. Barbeau
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
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Summary

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The observed anomalies in high density lipoproteins in Friedreich's ataxia led us to investigate the state of cellular membranes in this illness. As a preliminary screening program, we studied the shape of erythrocytes; the phospho-lipid content of platelets and the transport properties of these membranes as indirectly reflected in the absorption of Vit E and the renal handling of orally injected taurine. All these investigations were normal, except for a tendency towards more echinocytes in Friedreich's ataxia and the significant increase in taurine urinary excretion after an oral load. We concluded that the possible membrane abnormalities are not major and will have to be searched for with more subtle and specific tests.

Type
Research Article
Copyright
Copyright © Canadian Neurological Sciences Federation 1979

References

Anfano, M. A., Naewanij, J. O. and Lamb, A. I. (1978). Simplified two-step column Chromatographie determination of taurine in urine. Clin. Chem. 24: 321325.Google Scholar
Barbeau, A., Breton, G., Lemieux, B. and Butterworth, R. F. (1976). Bilirubin metabolism in Friedreich's ataxia Preliminary investigation. Can. J. Neurol. Sci. 3: 365372.Google ScholarPubMed
Bertoni, J. M., Falls, H. F., Alpern, M., Kormen, E., Abraham, F. A. and Bossemeyer, R. W. (1978). Fat soluble vitamin deficiency syndrome resembling Bassen-Kornzweig disease. Neurology 28: 390.Google Scholar
Blahd, W. H., Bloom, A. and Drell, W. (1955). Qualitative study of aminoaciduria in muscular dystrophy and myotonia dystrophica. Proc. Soc. Exp. Biol. Med. 90: 704706.Google ScholarPubMed
Bouquet, P. L. and Fromageot, P. (1965). Sur l'origine de la taurine urinaire excrétée par le rat soumis à une irradiation par le 60Co. Biochim. Biophys. Acta 3: 4050.Google Scholar
Chesney, R. W., Jax, D. K., Scriver, C. R. and Mohyuddin, F. (1978). Taurine transport in mammalian kidney. In: Taurine and Neurological Disorders, ed. Barbeau, A. and R. J. Huxtable, Raven Press, New York, pp. 7393.Google Scholar
Filla, A., Butterworth, R. F., Geoffroy, G., Lemieux, B. and Barbeau, A. (1978). Platelet taurine uptake in spinocerebellar degeneration. Can. J. Neurol. Sci. 5: 125130.Google ScholarPubMed
Fredrickson, O. S., Gotto, A. M. and Levy, R. I. (1972). Familial lipoprotein deficiency.In: The Metabolic Basis of Inherited Disease (Stanbury, J. B.; Wyngaardcn, J. B. and Fredrickson, D. S., eds.), 3rd Edition, McGraw-Hill, New York, pp. 493530.Google Scholar
Hall, C. D., Stowe, F. R. and Summer, G. K. (1974). Familial cerebellar dyssynergia and myoclonus epilepsy associated with defect of amino acid metabolism. Neurology 24: 375.Google Scholar
Howland, J. L. and Iyer, J. L. (1977). Erythrocyte lipids in heterozygous carriers of Duchenne Muscular Dystrophy. Science 198: 309311.Google ScholarPubMed
Huang, Y. S., Nestruck, A. C., Bar-Beau, A., Bouchard, J. P. and Davignon, J. (1978). Plasma lipids and lipoproteins in Friedreich's ataxia and familial spastic ataxia — Evidence for an abnormal composition of high density lipoproteins. Can. J. Neurol. Sci. 5: 149156.Google ScholarPubMed
Karlsson, I., Alling, C. and Svenner-Holm, L. (1971). Major plasma lipids and their fatty acid composition in multiple sclerosis and other neurological diseases. Acta Neurol. Scand. 47: 403412.Google ScholarPubMed
Kunze, D., Reichmann, G., Egger, E., Leuschner, G. and Eckhardt, H. (1973). Erythrozytenlipide Bei Progressiver Muskeldystrophie. Clin. Chim. Acta, 43: 333341.CrossRefGoogle Scholar
Lemieux, B., Barbeau, A., Beron-Iade, V., Shapcott, D., Breton, G., Geoffroy, G. and Melancon, S. (1976). Amino acid metabolism in Friedreich's ataxia. Can. J. Neurol. Sci. 3: 373378.Google ScholarPubMed
Marcus, A. J., Sufier, L. B. and Ullman, H. L. (1972). The lipids of human platelets. In: Blood lipids, lipoproteins: quantitation, composition and metabolism. Ed. by Nelson, G. J., Wiley & Sons Inc., New York, pp. 417439.Google Scholar
Mars, H., Lewis, L. A., Lazzarini-Robertson, A., Butkus, A. and Williams, G. H.(1969). Familialhypo-0-lipoproteinemia. Am. J. Med. 46: 886900.Google Scholar
Martinek, R. G. (1964). Method for the determination of Vitamin E (total tocopherols) in serum. Clin. Chem. 10: 10781086.Google ScholarPubMed
McBride, J. A. and Jacob, H. S. (1970). Abnormal kinetics of red cell membrane cholesterol in acanthocytes: studies in genetic and experimental abetalipoprotein-emia and in spur cell anemia. Brit. J. Haemat. 18: 383397.Google Scholar
Nevin, N., Hurwitz, J. L. and Neill, D. W. (1964). Camptodactyly with mental deficiency. J. Med. Genet. 3: 265268.Google Scholar
Portman, O. W. and Mann, G. V. (1955). The distribution of taurine-S35 and taurocholates-S35 in the rat: dietary influences. J. Biol. Chem. 213: 733743.Google Scholar
Roses, A. D. and Appel, S. H. (1974). Muscular dystrophies. Lancet 2: 1400.Google ScholarPubMed
Takahashi, Y., Uruno, K. and Kimura, S. (1977). Vitamin E binding proteins in human serum. J. Nutr. Sci. Vitaminol. 23: 201209.Google ScholarPubMed
Tsen, C. C. (1961). An improved spectropho-tometric method for the determination of tocopherols using 4,7-diphenyl-l, 10-phen-antroline. Anal. Chem. 33: 849851.Google Scholar