Aziz N A, Onkenhout W, Kerstens H J, Roos Raymund A C
Department of Neurology, Leiden University Medical Centre, Leiden, the Netherlands.
Department of Clinical Chemistry and Laboratory Medicine, Unit of Metabolic Diseases, Leiden University Medical Centre, The Netherlands.
PLoS Curr. 2015 Sep 16;7:ecurrents.hd.c63b441d04bb6738c0234f91c2b3e312. doi: 10.1371/currents.hd.c63b441d04bb6738c0234f91c2b3e312.
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.
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.
There were no significant differences in the plasma or urine concentrations of cystathionine or any other amino acid between HD patients and controls.
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.
最近在亨廷顿舞蹈病（HD）患者和几种转基因HD小鼠模型中发现，参与从胱硫醚生成半胱氨酸的主要酶——胱硫醚γ-裂解酶（CSE）严重缺乏。因此，我们推测HD患者血液和尿液中的胱硫醚水平可能升高，且这种升高可能与疾病进展相关。
我们测量了9例早期HD患者以及9例年龄、性别和体重指数相匹配的对照者空腹血浆和24小时尿液样本中胱硫醚以及其他22种氨基酸的浓度。
HD患者与对照者之间，血浆或尿液中胱硫醚或任何其他氨基酸的浓度均无显著差异。
我们没有发现早期HD患者血浆或尿液中胱硫醚浓度发生变化的证据。因此，胱硫醚水平不太可能作为HD的状态生物标志物。
