Wartiovaara K, Hytönen M, Vuori M, Paulin L, Rinne J, Sariola H
Institute of Biotechnology, University of Helsinki, Helsinki, FIN-00014, Finland.
Exp Neurol. 1998 Aug;152(2):307-9. doi: 10.1006/exnr.1998.6857.
Glial cell line-derived neurotrophic factor (GDNF) is a potent survival factor for nigrostriatal dopaminergic, central cholinergic, and motoneurons. GDNF also prevents the neuronal loss in experimental animal models for Parkinson's disease (PD). We have now investigated the GDNF gene for possible mutations in a group of nonfamilial PD and other patients. By cleavase fragment length polymorphism (CFLP) analysis and direct sequencing of the full coding region of GDNF gene we found a novel GDNF sequence variant in 1 of 30 PD patients. The alteration does not change the predicted amino acid sequence and it was also found in 1 of 20 patients without PD, suggesting that it represents a polymorphism in the gene. No other sequence variations were found. We conclude therefore that mutations in the GDNF coding region are not commonly contributing to the pathogenesis of PD.
胶质细胞源性神经营养因子（GDNF）是黑质纹状体多巴胺能神经元、中枢胆碱能神经元和运动神经元强有力的存活因子。GDNF还可防止帕金森病（PD）实验动物模型中的神经元损失。我们现已对一组非家族性PD患者和其他患者的GDNF基因进行了可能的突变研究。通过裂解酶片段长度多态性（CFLP）分析和GDNF基因完整编码区的直接测序，我们在30例PD患者中的1例中发现了一种新的GDNF序列变异。这种改变并未改变预测的氨基酸序列，并且在20例无PD的患者中的1例中也发现了该变异，这表明它代表了该基因中的一种多态性。未发现其他序列变异。因此，我们得出结论，GDNF编码区的突变通常不会导致PD的发病机制。
