由于临床症状复杂，精神分裂症一直都缺乏一个明确的分子诊断标准。
上海交通大学Bio-X研究院万春玲课题组与系统生物医学研究院贾伟课题组的科研人员合作，新近建立了精神分裂症的分子诊断方法，其研究论文10月25日发表在最新一期国际权威学术刊物《分子精神病学》杂志上。
精神分裂症是最常见的精神疾病之一，其发病率在世界不同文化、地理区域中为0.5%~1%。该疾病临床症状复杂，目前均依据美国精神病学会制定的精神疾病诊断和统计手册Ⅳ（DSM-Ⅳ）和世界卫生组织制定的国际疾病伤害及死因分类标准第十版（ICD-10）进行诊断。而诊断中，由于缺乏分子诊断标准，这成了该疾病临床诊断及其治疗评价的瓶颈。
上海交通大学两个课题组的科研人员采用气相色谱-飞行质谱（GC-TOFMS）的分析方法，调查了112名精神分裂症病人和110名健康志愿者血清和尿液的代谢物谱。为建立该疾病的代谢分子诊断方法，科研人员将受试人群被分成训练集（62名病人和62名健康人）和验证集2组（50名病人和48例健康人）。研究发现，血清中甘油、二十碳烯酸、β-羟基丁酸、丙酮酸和胱氨酸等代谢物在病人体内有明显表达异常，用这些物质建立疾病诊断模型可以准确诊断精神分裂症病人。当上述血清代谢标志物中加入另一物质——尿液β-羟基丁酸时，显示出对精神分裂症有很好的预测分类效果。
专家分析认为，该研究发现的多种脂肪酸和酮体在精神分裂症病人的血清和尿液中均显著高于健康人，这一代谢异常可能源于病人脑内葡萄糖供能不足，而病人通过脂肪酸分解代谢机制，生产出更多的酮体供线粒体所用，用以维持糖代谢的平衡。
相关英文论文摘要：
Potential metabolite markers of schizophrenia
Schizophrenia is a severe mental disorder that affects 0.5–1% of the population worldwide. Current diagnostic methods are based on psychiatric interviews, which are subjective in nature. The lack of disease biomarkers to support objective laboratory tests has been a long-standing bottleneck in the clinical diagnosis and evaluation of schizophrenia. Here we report a global metabolic profiling study involving 112 schizophrenic patients and 110 healthy subjects, who were divided into a training set and a test set, designed to identify metabolite markers. A panel of serum markers consisting of glycerate, eicosenoic acid, β-hydroxybutyrate, pyruvate and cystine was identified as an effective diagnostic tool, achieving an area under the receiver operating characteristic curve (AUC) of 0.945 in the training samples (62 patients and 62 controls) and 0.895 in the test samples (50 patients and 48 controls). Furthermore, a composite panel by the addition of urine β-hydroxybutyrate to the serum panel achieved a more satisfactory accuracy, which reached an AUC of 1 in both the training set and the test set. Multiple fatty acids and ketone bodies were found significantly (P<0.01) elevated in both the serum and urine of patients, suggesting an upregulated fatty acid catabolism, presumably resulting from an insufficiency of glucose supply in the brains of schizophrenia patients.
英文论文链接：https://www.nature.com/mp/journal/vaop/ncurrent/full/mp2011131a.html
