Studies on the role of taurine in Friedreich's ataxia

AbstractNew studies were undertaken to verify the previous findings of increased urinary excretion of taurine, in the basal state and after challenge with a taurine load, in Friedreich's disease. Particular attention was paid to possible causes of error such as weight, muscle mass, creatine and creatinine excretion, variability with time and appropriate control groups. Although the overall findings were confirmed, their interpretation is open to question because of all these factors of error. Many possibilities must still be further explored to account for the apparent taurine retention defect observed in many cases of Friedreich's disease.

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Cardiac Pharmacology and Cardiomyopathy in Friedreich's Ataxia

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100024823 ◽

1978 ◽

Vol 5 (1) ◽

pp. 83-91 ◽

Cited By ~ 8

Author(s):

Ryan J. Huxtable

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Cause Of Death ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Therapeutic Possibilities

SUMMARY:Friedreich's ataxia is almost always associated with a cardiomyopathy. The cardiomyopathy and its attendant cardiopulmonary sequelae is the usual cause of death in this disease. The author reviews the known pharmacology of the heart, particularly as it applies to hypertrophic cardiomyopathy. The important role played by calcium and the possible role of taurine is stressed. Therapeutic possibilities are mentioned.

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

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100043985 ◽

1982 ◽

Vol 9 (2) ◽

pp. 209-215 ◽

Cited By ~ 6

Author(s):

A. Barbeau ◽

F. Patenaude ◽

G. Nadon ◽

M. Charbonneau ◽

T. Cloutier

Keyword(s):

Urinary Excretion ◽

Autosomal Recessive ◽

Genetic Defect ◽

High Capacity ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Uptake System ◽

Genetic Pattern ◽

Before And After ◽

Normal Controls

SUMMARY: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.

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The role of frataxin in fission yeast iron metabolism: Implications for Friedreich's ataxia

Biochimica et Biophysica Acta (BBA) - General Subjects ◽

10.1016/j.bbagen.2014.06.017 ◽

2014 ◽

Vol 1840 (10) ◽

pp. 3022-3033 ◽

Cited By ~ 9

Author(s):

Yu Wang ◽

Yiwei Wang ◽

S. Marcus ◽

L.S. Busenlehner

Keyword(s):

Fission Yeast ◽

Iron Metabolism ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia

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Role of muscle loss in the age-associated reduction in VO2 max

Journal of Applied Physiology ◽

10.1152/jappl.1988.65.3.1147 ◽

1988 ◽

Vol 65 (3) ◽

pp. 1147-1151 ◽

Cited By ~ 366

Author(s):

J. L. Fleg ◽

E. G. Lakatta

Keyword(s):

Body Weight ◽

Muscle Mass ◽

Muscle Loss ◽

Creatinine Excretion ◽

Progressive Decline ◽

Men And Women ◽

Age Regression ◽

Baltimore Longitudinal Study ◽

Negative Linear Relationship

A progressive decline in maximal O2 consumption (VO2max) expressed traditionally as per kilogram body weight generally occurs with advancing age. To investigate the extent to which this decline could be attributable to the age-associated loss of metabolically active tissue, i.e., muscle, we measured 24-h urinary creatinine excretion, an index of muscle mass, in 184 healthy nonobese volunteers, ages 22-87 yr, from the Baltimore Longitudinal Study of Aging who had achieved a true VO2max during graded treadmill exercise. A positive correlation was found between VO2max and creatinine excretion in both men (r = 0.64, P less than 0.001) and women (r = 0.47, P less than 0.001). As anticipated, VO2max showed a strong negative linear relationship with age in both men and women. Creatinine excretion also declined with age in men and women. When VO2max was normalized for creatinine excretion, the variance in the VO2max decline attributable to age declined from 60 to 14% in men and from 50 to 8% in women. Thus comparing the standard age regression of VO2max per kilogram body weight with that in which VO2max is normalized per milligram creatinine excretion, the decline in VO2max between a hypothetical 30 yr old and a 70 yr old was reduced from 39 to 18% in men and from 30 to 14% in women. We conclude that in both sexes, a large portion of the age-associated decline in VO2max in non-endurance-trained individuals is explicable by the loss of muscle mass, which is observed with advancing age.

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The dentate nucleus in Friedreich’s ataxia: the role of iron-responsive proteins

Acta Neuropathologica ◽

10.1007/s00401-007-0220-y ◽

2007 ◽

Vol 114 (2) ◽

pp. 163-173 ◽

Cited By ~ 98

Author(s):

Arnulf H. Koeppen ◽

Susan C. Michael ◽

Mitchell D. Knutson ◽

David J. Haile ◽

Jiang Qian ◽

...

Keyword(s):

Dentate Nucleus ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia

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Role of Oxidative Damage in Friedreich's Ataxia

Neurochemical Research ◽

10.1023/b:nere.0000014826.00881.c3 ◽

2004 ◽

Vol 29 (3) ◽

pp. 561-567 ◽

Cited By ~ 50

Author(s):

J. L. Bradley ◽

S. Homayoun ◽

P. E. Hart ◽

A. H. V. Schapira ◽

J. M. Cooper

Keyword(s):

Oxidative Damage ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia

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The Role of Iron in Friedreich’s Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models

Frontiers in Neuroscience ◽

10.3389/fnins.2019.00075 ◽

2019 ◽

Vol 13 ◽

Cited By ~ 16

Author(s):

José Vicente Llorens ◽

Sirena Soriano ◽

Pablo Calap-Quintana ◽

Pilar Gonzalez-Cabo ◽

María Dolores Moltó

Keyword(s):

Animal Models ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

Human Tissues

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The role of oxidative stress in Friedreich's ataxia

FEBS Letters ◽

10.1002/1873-3468.12928 ◽

2017 ◽

Vol 592 (5) ◽

pp. 718-727 ◽

Cited By ~ 44

Author(s):

Federica Lupoli ◽

Tommaso Vannocci ◽

Giovanni Longo ◽

Neri Niccolai ◽

Annalisa Pastore

Keyword(s):

Oxidative Stress ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia

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

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s031716710011978x ◽

1979 ◽

Vol 6 (2) ◽

pp. 285-289 ◽

Cited By ~ 14

Author(s):

A. Filla ◽

R. F. Butter Worth ◽

A. Barbeau

Keyword(s):

Urinary Excretion ◽

Screening Program ◽

Friedreich’S Ataxia ◽

Friedreich's Ataxia ◽

High Density Lipoproteins ◽

Transport Mechanisms ◽

Renal Handling ◽

Pilot Studies ◽

Preliminary Screening ◽

Phospho Lipid

SummaryThe 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.

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