scholarly journals Taurine and Beta-Alanine Uptake in Cultured Human Skin Fibroblasts from Patients with Friedreich's Ataxia

1979 ◽  
Vol 6 (2) ◽  
pp. 251-253 ◽  
Author(s):  
S.B. Melancon ◽  
B. Grignon ◽  
M. Potier ◽  
L. Dallaire
Keyword(s):  
Amino Acid ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Skin Fibroblasts ◽  
Carrier Protein ◽  
Human Skin Fibroblasts ◽  
Beta Alanine ◽  
Cultured Skin ◽  
Significant Difference ◽  
Amino Acid Carrier

SummaryTaurine and ß-alanine uptake kineiics were studied in cultured skin fibroblasts from 9 patients with Friedreich's Ataxia and 8 controls. No significant difference was observed. The data support the presence of normal ß-amino acid carrier protein in Friedreich's Ataxia cell membrane.

scholarly journals The Beta-Amino Acid Transport System in Friedreich's Ataxia

1980 ◽  
Vol 7 (4) ◽  
pp. 441-446 ◽  
Author(s):  
S.B. Melançon ◽  
B. Grignon ◽  
E. Ledru ◽  
G. Geoffroy ◽  
M. Potier ◽  
...  
Keyword(s):  
Amino Acid ◽  
Transport System ◽  
Amino Acid Transport ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Skin Fibroblasts ◽  
Acid Uptake ◽  
Acid Transport ◽  
Amino Acid Transport System ◽  
Cultured Skin

SUMMARY:Taurine and β-amino uptake in cultured skin fibroblasts proceeds through at least two distinct amino acid transport systems. The predominant Bamino acid uptake system which we refer to as the “Beta” system, incorporates taurine in a proportion of 95%, β-alanine in a proportion of 80% and does not incorporate β-amino-isobutyric acid. A second transport system for β-alanine seems to be operative in cultured skin fibroblasts and this system shares the characteristics of system “L” for branched-chain and ringside neutral amino acids. Results of ion depletion experiments, metabolic inhibition by drugs and blocking agents and previous kinetic studies of taurine and β-alanine uptake in cultured skin fibroblasts failed to disclose any major difference in β-amino acid transport between control individuals and patients with Friedreich's ataxia.

scholarly journals Friedreich's ataxia: malic enzyme activity in cellular fractions of cultured skin fibroblasts

1984 ◽  
Vol 11 (S4) ◽  
pp. 637-642 ◽  
Author(s):  
S.B. Melançon ◽  
R. Cloutier ◽  
M. Potier ◽  
L. Dallaire ◽  
M. Vanasse ◽  
...  
Keyword(s):  
Malic Enzyme ◽  
Genetic Defect ◽  
Mitochondrial Fraction ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Skin Fibroblasts ◽  
Cultured Skin ◽  
Dependent Activity ◽  
Malic Enzyme Activity ◽  
Mitochondrial Malic Enzyme

AbstractWe have measured the activity of malic enzyme NADP+ dependent in the nuclear, mitochondrial, lysosomal and cytosolic fractions of cultured skin fibroblasts from twelve patients with Friedreich's ataxia and nine control subjects. Hexosaminidase, cytochrome-C-oxidase, lactate dehydrogenase and malic enzyme NAD+ dependent were used as marker enzymes. The activity of malic enzyme NADP+ dependent was not significantly reduced in the mitochondrial fraction of patients with Friedreich's ataxia as compared with controls. When corrected for possible contamination between mitochondrial and cytosolic fractions, malic enzyme NADP+ dependent activity was still not significantly reduced in patients with Friedreich's ataxia. Unless critical methodological differences were overlooked in this or previously published studies, we conclude that mitochondrial malic enzyme deficiency is not the primary genetic defect underlying Friedreich's ataxia.

scholarly journals The importance of central auditory evaluation in Friedreich's ataxia

2018 ◽  
Vol 76 (3) ◽  
pp. 170-176 ◽  
Author(s):  
Bianca Simone Zeigelboim ◽  
Hélio A. G. Teive ◽  
Michèlli Rodrigues da Rosa ◽  
Jéssica Spricigo Malisky ◽  
Vinicius Ribas Fonseca ◽  
...  
Keyword(s):  
Pure Tone ◽  
Evoked Potential ◽  
Pure Tone Audiometry ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Auditory Evoked Potential ◽  
Acoustic Reflex ◽  
Cross Sectional ◽  
Significant Difference ◽  
Central Auditory Function

ABSTRACT Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance measures and brainstem auditory evoked potential (BAEP) assessments. Results The observed alterations were: 43.3% in the pure tone audiometry, bilateral in 36.7%; 56.6% in the BAEP test, bilateral in 50%; and 46.6% in the acoustic immittance test. There was a significant difference (p < 0.05) in the comparison between the tests performed. Conclusion In the audiological screening, there was a prevalence of the descending audiometric configuration at the frequency of 4kHz, and absence of the acoustic reflex at the same frequency. In the BAEP test, there was a prevalence of an increase of the latencies in waves I, III and V, and in the intervals of interpeaks I-III, I-V and III-V. In 13.3% of the patients, wave V was absent, and all waves were absent in 3.3% of patients.

Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders

2008 ◽  
Vol 7 (5) ◽  
pp. 421-425 ◽  
Author(s):  
Vivian E. Shih ◽  
Roseann Mandell ◽  
Harvey L. Levy ◽  
John W. Littlefield
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Free Amino Acids ◽  
Free Amino ◽  
Metabolic Disorders ◽  
Skin Fibroblasts ◽  
Cultured Skin

scholarly journals Dicarboxylic Amino Acid Uptake in Normal, Friedreich's Ataxia, and Dicarboxylic Aminoaciduria Fibroblasts

1979 ◽  
Vol 6 (2) ◽  
pp. 263-273 ◽  
Author(s):  
S.B. Melancon ◽  
B. Grenier ◽  
L. Dallaire ◽  
M. Potier ◽  
G. Fontaine ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Amino Acid Uptake ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Acid Uptake ◽  
Normal Cells ◽  
Dicarboxylic Amino Acid ◽  
Normal Individuals ◽  
Kinetics Of

SummaryGlutamic and aspartic acid uptake was measured in skin fibroblasts from patients with Friedreich's Ataxia, dicarboxylic aminoaciduria, and normal individuals. The results showed no difference in uptake kinetics of either dicarboxylic amino acids between Friedreich's Ataxia and normal cells, but reduced uptake velocities in dicarboxylic aminoaciduria fibroblasts. Friedreich's Ataxia fibroblasts were, however, less calcium-dependant and more magnesium and phosphate-dependent than controls in glucose-free incubation mixture. This difference might be related to some degree of glucose intolerance by Friedreich's Ataxia fibroblasts in culture.

scholarly journals Oral Lecithin and Linoleic Acid in Friedreich’s Ataxia: II. Clinical Results

1982 ◽  
Vol 9 (2) ◽  
pp. 155-164 ◽  
Author(s):  
S.B. Melancon ◽  
M. Vanasse ◽  
G. Geoffroy ◽  
L. Barabe ◽  
A. Proulx ◽  
...  
Keyword(s):  
Linoleic Acid ◽  
Clinical Performance ◽  
Stage Iv ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Safflower Oil ◽  
Therapeutic Trial ◽  
Mean Values ◽  
Significant Difference ◽  
Normal Controls

SUMMARY:Twenty-two patients with Friedreich’s Ataxia and ten normal controls were followed for one year and assessed as to their clinical performance after two successive six-month periods of lecithin or safflower oil. Results demonstrated no significant difference in performance scores according to group assignation, neither in patients nor in controls. According to stages, two patients in stage I and to a lesser degree, one patient in stage IV showed better scores for muscle strength and some motor accuracy and coordination tests with lecithin. Controls as groups maintained positive scores in all tests. Patients as groups showed negative mean values in nine out of eleven tests. Again as groups, patients receiving safflower oil demonstrated a mean 8% less deterioration than patients receiving lecithin. This study demonstrates that objective clinical tests and the participation of normal controls are a must in a therapeutic trial implicating patients with a progressive disorder such as Friedreich’s Ataxia. The possible role of linoleic acid as the active factor from which clinical improvement proceeded in some specific patients and with early functional stages of the disease, has to be considered and reevaluated in the near future.

scholarly journals INTRALIPID (IL) AND AMINO ACID TRANSPORT IN HUMAN SKIN FIBROBLASTS

1977 ◽  
Vol 11 (4) ◽  
pp. 449-449
Author(s):  
Betty Revsin ◽  
Joyce Lebowitz ◽  
Grant Morrow
Keyword(s):  
Amino Acid ◽  
Human Skin ◽  
Amino Acid Transport ◽  
Skin Fibroblasts ◽  
Acid Transport ◽  
Human Skin Fibroblasts

scholarly journals Amino Acid Changes in the Mouse Mutant Dystonia Musculorum Similar to Those in Friedreich’s Ataxia

1982 ◽  
Vol 9 (2) ◽  
pp. 185-188 ◽  
Author(s):  
A. Messer
Keyword(s):  
Amino Acid ◽  
Experimental Model ◽  
Neurological Disorder ◽  
Autosomal Recessive ◽  
Red Nucleus ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Mouse Mutant ◽  
Sensory Afferents ◽  
Recessive Mutant

SUMMARY:An autosomal recessive mutant strain of mouse with a progressive neurological disorder is described. Histopathology is dramatic in the sensory afferents and in the red nucleus. In the cerebellar vermis the concentrations of glutamate, aspartate, glycine and GABA are significantly reduced, and in the cerebellar hemispheres the taurine/glutamate ratio is elevated. These mice may provide a useful experimental model of Friedreich’s ataxia.

scholarly journals Amino Acid Metabolism in Friedreich's Ataxia

1976 ◽  
Vol 3 (4) ◽  
pp. 373-378 ◽  
Author(s):  
B. Lemieux ◽  
A. Barbeau ◽  
V. Beroniade ◽  
D. Shapcott ◽  
G. Breton ◽  
...  
Keyword(s):  
Amino Acids ◽  
Amino Acid ◽  
Aspartic Acid ◽  
Plasma Levels ◽  
Genetic Defect ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Physiological Importance ◽  
And Control ◽  
Csf Concentration

SUMMARY:A study of amino acids determined by sequential Multi-sample Amino Acid Automatic Analyzer in plasma, urine and cerebrospinal fluid (CSF) in patients with Friedreich's ataxia and control subjects has revealed a number of mathematically significant variations from normal. Of practical physiological importance are the following: a high urinary excretion of alanine with slightly elevated plasma levels; a low plasma and CSF concentration of aspartic acid in the resence of normal urinary values and finally a low CSF concentration of taurine accompanied by normal plasma levels, but elevated urinary output and renal clearance rates. We postulate that the modifications in alanine and aspartic acid are less specific and probably secondary, but there could be a genetic defect in the membrane transport of taurine and the other β-amino acids in Friedreich's ataxia.

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