Summary
Onset of Huntington’s disease (HD) negatively correlates with CAG repeat length of the HD gene, which encodes the protein huntingtin. This protein interacts with the homocysteine metabolizing enzyme cystathionine β-synthase (CBS). Objective of this study was to analyze the impact of CAG repeats, polymorphisms of various homocysteine metabolizing enzymes, like CBS, Methyltetrahydrofolate Reductase (MTHTR), Methionine Synthase Reductase (MSR) and methionine synthase (MS) on HD onset in 171 patients. The significant impact of CAG repeats on HD onset (χ2 = 25.54, FG = 4, p < 0.0001) with a significant correlation between both (R = −0.521, p = 0.01) was obvious. HD patient s with the homozygous MTHFR-1298-CC significantly (p = 0.024) earlier experienced HD symptoms. There was no influence demonstrable of CBS, MSR and MS. Determination of MTHFR polymorphisms and CAG repeats enables screening for subjects with putative early HD onset in order to study neuroprotective compounds in their efficacy to delay HD symptoms.
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Brune, N. et al. (2004). Methyltetrahydrofolate reductase polymorphism influences onset of Huntington’s disease. In: Müller, T., Riederer, P. (eds) Focus on Extrapyramidal Dysfunction. Journal of Neural Transmission. Supplementa, vol 68. Springer, Vienna. https://doi.org/10.1007/978-3-7091-0579-5_12
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DOI: https://doi.org/10.1007/978-3-7091-0579-5_12
Publisher Name: Springer, Vienna
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