Lara M C, Weiss B, Illa I, Madoz P, Massuet L, Andreu A L, Valentino M L, Anikster Y, Hirano M, Martí R
Laboratori de Patologia Neuromuscular i Mitocondrial, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119, 08035 Barcelona, Spain.
Neurology. 2006 Oct 24;67(8):1461-3. doi: 10.1212/01.wnl.0000239824.95411.52. Epub 2006 Sep 13.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by thymidine phosphorylase (TP) deficiency, which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). In this work, we report that infusion of platelets from healthy donors to patients with MNGIE restored transiently circulating TP and reduced plasma dThd and dUrd levels, suggesting that treatments to achieve permanent restoration of circulating TP such as allogeneic stem cell transplantation or gene transfer might be therapeutic.
线粒体神经胃肠性脑肌病（MNGIE）由胸苷磷酸化酶（TP）缺乏引起，导致胸苷（dThd）和脱氧尿苷（dUrd）的毒性蓄积。在本研究中，我们报告向MNGIE患者输注健康供体的血小板可使循环中的TP短暂恢复，并降低血浆dThd和dUrd水平，这表明实现循环TP永久恢复的治疗方法，如异基因干细胞移植或基因转移，可能具有治疗作用。
