Libman-Sokołowska Małgorzata, Drozdowicz Ewa, Nasierowski Tadeusz
Katedra i Klinika Psychiatryczna WUM.
Psychiatr Pol. 2015;49(6):1149-58. doi: 10.12740/PP/37705.
Many scientists agree that the genes involved in the aetiology and pathogenesis of psychiatric diseases could serve as biomarkers - biological indicators of the health status. Genetic markers may inform about general predispositions of a person to develop certain diseases, while other biochemical factors, such as concentrations of substances in body fluids, reflect the actual condition of the organism. Researchers involved in studies on schizophrenia are interested in the gene and protein of the brain-derived neurotrophic factor (BDNF) due to the role of this neurotrophin in the process of neurogenesis, synaptogenesis and its influence on the functioning of dopaminergic neurons. Among patients diagnosed with schizophrenia, the BDNF gene polymorphisms and methylation in the promoter sequences were studied. The neurotrophin was also assayed in the blood of patients, also taking into account the effect of pharmacotherapy on the BDNF concentration, and post-mortem in the brains of the patients. The results of current studies are contradictory. The only systematically confirmed observation is the lowered concentration of BDNF in the serum of patients with schizophrenia compared to healthy controls. It seems that so far our knowledge about the BDNF gene expression and the functions of the protein is not sufficient to include BDNF analysis in the clinical assessment of patients with schizophrenia.
许多科学家一致认为,参与精神疾病病因学和发病机制的基因可作为生物标志物——健康状况的生物学指标。基因标记可以反映一个人患某些疾病的总体易感性,而其他生化因素,如体液中物质的浓度,则反映生物体的实际状况。由于这种神经营养因子在神经发生、突触形成过程中的作用及其对多巴胺能神经元功能的影响,参与精神分裂症研究的人员对脑源性神经营养因子(BDNF)的基因和蛋白感兴趣。在被诊断为精神分裂症的患者中,研究了BDNF基因多态性和启动子序列中的甲基化。还对患者血液中的神经营养因子进行了检测,同时考虑到药物治疗对BDNF浓度的影响,并对患者大脑进行了尸检。目前的研究结果相互矛盾。唯一得到系统证实的观察结果是,与健康对照组相比,精神分裂症患者血清中BDNF浓度降低。到目前为止,我们对BDNF基因表达和该蛋白功能的了解似乎还不足以将BDNF分析纳入精神分裂症患者的临床评估中。