Hostname: page-component-78c5997874-4rdpn Total loading time: 0 Render date: 2024-11-20T01:13:05.076Z Has data issue: false hasContentIssue false
  • English
  • Français

A Possible Genetic Pattern of Taurine Urinary Excretion in Friedreich’s Ataxia

Published online by Cambridge University Press:  18 September 2015

A. Barbeau ,
F. Patenaude ,
G. Nadon ,
M. Charbonneau  and
T. Cloutier
A. Barbeau*
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
F. Patenaude
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
G. Nadon
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
M. Charbonneau
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
T. Cloutier
Affiliation:
Department of Neurobiology, Clinical Research Institute of Montreal
*
Clinical Research Institute of Montreal, 110 Pine Avenue West, Montreal, Quebec, Canada H2W 1R7
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The taurine urinary excretion pattern, before and after an oral load of 250 mg taurine, was studied in normal control subjects and in patients with typical Friedreich’s ataxia. It was demonstrated that in both situations the ataxic patients fell within the sub-types of “intermediate” and “high taurine excretors”, while none were “low taurine excretors”. It was also demonstrated that the excretion of taurine after a load in the obligate heterozygotes parents of the ataxic patients was intermediate between normal controls and patients. It is postulated that patients with Friedreich’s Ataxia lack normal regulation of the high affinity-low capacity uptake system for taurine (the TH system) in the brush border of kidney tubules. The low affinity-high capacity uptake system in the same membranes (the TL system) appears to be normal in Friedreich’s patients. The normal allele could be called THN and the variant THF and this trait would be inherited in an autosomal recessive fashion if it is linked to the Freidreich phenotype. Whether this finding is or is not the basic genetic defect in Friedreich’s Ataxia will require more studies to clarify, but it is of interest to note that a similar pattern appears to be present in the fibroblasts of these patients.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 9 , Issue 2 , May 1982 , pp. 209 - 215
Copyright
Copyright © Canadian Neurological Sciences Federation 1982

References

REFERENCES

Anfano, M.A., Naewanij, J.O. and Lamb, A.I. (1978). Simplified two-step column chromatographic determination of taurine in urine. Clin. Chem. 24: 321–325.Google Scholar
Azari, J., Reisine, R., Barbeau, A., Yamamura, H.I. and Huxtable, R.J. (1979). The Syrian Golden Hamster: a model for the cardiomyopathy of Friedreich’s Ataxia. Can. J. Neurol. Sci. 6: 223–226.CrossRefGoogle Scholar
Barbeau, A. (1982). Taurine and Friedreich’s Ataxia: an update, in: Taurine in Nutrition and Neurology. Edited by Huxtable, R.J. and Pasantes-Morales, H., Plenum Publishing, pp. 389–399.CrossRefGoogle Scholar
Barbeau, A. and Huxtable, R.J., Editors (1978). Taurine and Neurological Disorders, Raven Press, New York.CrossRefGoogle Scholar
Chesney, R.W., Scriver, C.R., Mohyuddin, F. (1976). Localization of the membrane effect in trans epithelial transport of taurine by parallel studies in vivo and vitro in hypertaurinuric mice. J. Clin. Invest. 57: 183–193.CrossRefGoogle Scholar
Filla, A., Butterworth, R.F., Geoffroy, G., Lemieux, B. and Barbeau, A. (1978). Platelet taurine uptake in spino-cerebellar degeneration. Can. J. Neurol. Sci. 5: 119–123.CrossRefGoogle Scholar
Filla, A., Butterworth, R.F. and Barbeau, A. (1979). Pilot studies on membranes and some transport mechanisms in Friedreich’s Ataxia. Can. J. Neurol. Sci. 6: 285–289.CrossRefGoogle ScholarPubMed
Geoffroy, G., Barbeau, A.. Breton, G., Lemieux, B., Aube, M., Leger, C. and Bouchard, J.P. (1976). Clinical description and Roentgenologic evaluation of patients with Friedreich’s Ataxia. Can. J. Neurol. Sci. 3:279–286.CrossRefGoogle ScholarPubMed
Goodman, H.O., Connoly, B.M., Mclean, W. and Resnick, M. (1980). Taurine transport in Epilepsy. Clin. Chemistry 26: 414–419.CrossRefGoogle ScholarPubMed
Goodman, H.O., King, J.S. and Thomas, J.J. (1964). Urinary excretion of beta-aminoiso-butyric acid and taurine in mongolism. Nature 204: 650–652.CrossRefGoogle ScholarPubMed
Huxtable, R., Azari, J., Relsin, T., Johnson, P., Yamamura, H.I., Barbeau, A. (1979). Regional distribution of amino acids in Friedreich’s Ataxia brains. Can. J. Neurol. Sci. 6: 255–258.CrossRefGoogle ScholarPubMed
Huxtable, R.J. and Barbeau, A., Editors (1976). Taurine. Raven Press, New York.Google ScholarPubMed
Huxtable, R.J. and Pasantesmorales, H. (1982) Editors. Taurine in Nutrition and Neurology. Advances in Exper. Med. Biol. V. 139, Plenum Press, New York.Google Scholar
Jacobsen, J.G. and Smith, L.H. (1968). Biochemistry and Physiology of Taurine and Taurine Derivatives. Physiol. Reviews 48: 424–511.CrossRefGoogle ScholarPubMed
Lemieux, B., Barbeau, A., Beroniade, V., Shapcott, D., Breton, G., Geoffroy, G. and Melancon, S. (1976). Amino acid metabolism in Friedreich’s Ataxia. Can. J. Neurol. Sci. 3: 373–378.CrossRefGoogle ScholarPubMed
Lemieux, B., Giguere, R., Barbeau, A., Melancon, S. and Shapcott, D. (1978). Taurine in cerebrospinal fluid in Friedreich’s Ataxia. Can. J. Neurol. Sci. 5: 125–129.CrossRefGoogle ScholarPubMed
Melancon, S.B., Grignon, B., Ledru, E., Geoffroy, G., Potier, M., Dallaire, L. and Vanasse, M. (1980). The Beta-amino acid transport system in Friedreich’s Ataxia. Can. J. Neurol. Sci. 7: 441–446.CrossRefGoogle ScholarPubMed
Melancon, S.B., Grignon, B., Potier, M. and Dallaire, L. (1979). Taurine and Beta-alanine uptake in cultured human skin fibroblasts from patients with Friedreich’s Ataxia. Can. J. Neurol. Sci. 6: 251–253.CrossRefGoogle ScholarPubMed
Pourcher, E. and Barbeau, A. (1980). Field testing of an Ataxia scoring and staging system. Can. J. Neurol. Sci. 7: 339–344.CrossRefGoogle ScholarPubMed
Scriver, C.R. and Hechtman, P. (1970). Human genetics of membrane transport with emphasis on amino acids. Adv. Hum. Genet. 1:211–274.Google ScholarPubMed