Abstract
Background: Recently a profound depletion of cystathionine γ-lyase (CSE), the principal enzyme involved in the generation of cysteine from cystathionine, was shown in Huntington disease (HD) patients and several transgenic HD mouse models. We therefore hypothesized that blood and urine cystathionine levels may be increased in HD patients and that this increase might correlate with disease progression. Methods: We measured concentrations of cystathionine as well as 22 other amino acids in fasting plasma and 24-h urine samples of nine early-stage HD patients and nine age, sex, and body mass index matched controls. Results: There were no significant differences in the plasma or urine concentrations of cystathionine or any other amino acid between HD patients and controls. Conclusion: We found no evidence for changes in plasma or urine concentrations of cystathionine in early-stage HD patients. Therefore, cystathionine levels are unlikely to be useful as a state biomarker in HD.
Highlights
Huntington disease (HD) is an autosomal dominant, neurodegenerative disorder caused by an expanded trinucleotide (CAG) repeat sequence in the first exon of the HD (HTT) gene, leading to an enlarged polyglutamine tract in the encoded protein huntingtin.1 Unwanted choreiform movements, psychiatric and behavioural disturbances and cognitive impairment characterize the disease
Subjects The HD and the control group did not differ with respect to age, sex, body mass index, body fat or lean body mass
There were no significant differences in plasma or urine concentrations of cystathionine between HD patients and controls
Summary
Huntington disease (HD) is an autosomal dominant, neurodegenerative disorder caused by an expanded trinucleotide (CAG) repeat sequence in the first exon of the HD (HTT) gene, leading to an enlarged polyglutamine tract in the encoded protein huntingtin. Unwanted choreiform movements, psychiatric and behavioural disturbances and cognitive impairment characterize the disease. As HD is a slowly progressive disease such biomarkers could initially be applied as surrogate trial end-points to allow rapid prioritization of potentially effective drugs. We hypothesized that blood and urine cystathionine levels may be increased in HD patients and that this increase might correlate with disease progression. Methods: We measured concentrations of cystathionine as well as 22 other amino acids in fasting plasma and 24-h urine samples of nine early-stage HD patients and nine age, sex, and body mass index matched controls. Results: There were no significant differences in the plasma or urine concentrations of cystathionine or any other amino acid between HD patients and controls. Conclusion: We found no evidence for changes in plasma or urine concentrations of cystathionine in early-stage HD patients. Cystathionine levels are unlikely to be useful as a state biomarker in HD
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