Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing 100020, China.
Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing 100020, China; Beijing Key Laboratory of Environmental & Viral Oncology, College of Life Science and Bioengineering, Beijing University of Technology, Beijing 100124, China.
Clin Chim Acta. 2016 Sep 1;460:88-92. doi: 10.1016/j.cca.2016.06.022. Epub 2016 Jun 21.
Myo-inositol (MI) deficiency is associated with an increased risk for neural tube defects (NTDs), mental disorders and metabolic diseases. We developed a gas chromatography-mass spectrometry (GC-MS) method to detect MI in human plasma, which was accurate, relatively efficient and convenient for clinical application.
An external standard method was used for determination of plasma MI. Samples were analyzed by GC-MS after derivatization. The stable-isotope labeled internal standard approach was used to validate the method's accuracy. Alpha fetal protein (AFP) was detected by chemiluminescence immunoassay.
The method was validated by determining the linearity, sensitivity and recovery rate. There was a good agreement between the internal standard approach and the present method. The NTD-affected pregnancies showed lower plasma MI (P=0.024) and higher AFP levels (P=0.001) than control. Maternal MI level showed a better discrimination in spina bifida subgroup, while AFP level showed a better discrimination in anencephaly subgroup after stratification analysis.
We developed a sensitive and reliable method for the detection of clinical plasma MI, which might be a marker for NTDs screening, and established fundamental knowledge for clinical diagnosis and prevention for the diseases related to disturbed MI metabolism.
肌醇（MI）缺乏与神经管缺陷（NTDs）、精神障碍和代谢疾病的风险增加有关。我们开发了一种气相色谱-质谱（GC-MS）方法来检测人血浆中的 MI，该方法准确、相对高效，便于临床应用。
采用外标法测定血浆 MI。样品经衍生化后用 GC-MS 分析。采用稳定同位素标记内标法验证方法的准确性。采用化学发光免疫法检测甲胎蛋白（AFP）。
通过确定线性、灵敏度和回收率对方法进行了验证。内标法与本方法具有良好的一致性。与对照组相比，NTD 受累妊娠的血浆 MI 水平较低（P=0.024），AFP 水平较高（P=0.001）。分层分析显示，MI 水平在脊柱裂亚组中的区分度更好，而 AFP 水平在无脑畸形亚组中的区分度更好。
我们开发了一种灵敏可靠的检测临床血浆 MI 的方法，该方法可能是 NTD 筛查的标志物，并为与 MI 代谢紊乱相关的疾病的临床诊断和预防奠定了基础。
