Yogo Yoshiaki, Sugimoto Chie, Zheng Huai-Ying, Kitamura Tadaichi
Department of Urology, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
No To Shinkei. 2007 Feb;59(2):109-18.
Progressive multifocal leukoencephalopathy (PML) is a fetal demyelinating disease in the central nervous system. PML was once a rare disease, but it is now relatively common among AIDS (acquired immunodeficiency syndrome) patients. The immunological state of patients mainly contributes to the pathogenesis of PML. Genetic changes of the etiological agent, however, may also be involved in the development and progression of the disease. The major genetic changes possibly associated with PML include the regulatory region rearrangement and the VP1 loop mutation. Both changes have been identified as genetic changes usually occurring in JCV (JCvirus) DNAs from the brain and cerebrospinal fluid of PML patients. Although it remained to be clarified how these changes are involved in the pathogenesis of PML, accumulating evidence suggests that the VP1 loop mutation is associated with the progression of PML. Here we overview studies (mainly those performed by ourselves) on these genetic changes.
进行性多灶性白质脑病（PML）是一种中枢神经系统的致死性脱髓鞘疾病。PML曾经是一种罕见疾病，但现在在艾滋病（获得性免疫缺陷综合征）患者中相对常见。患者的免疫状态是PML发病机制的主要因素。然而，病原体的基因变化也可能参与该疾病的发生和发展。可能与PML相关的主要基因变化包括调控区重排和VP1环突变。这两种变化均已被确定为通常发生在PML患者脑和脑脊液中的JC病毒（JCV）DNA中的基因变化。尽管这些变化如何参与PML的发病机制仍有待阐明，但越来越多的证据表明VP1环突变与PML的进展有关。在此，我们概述了关于这些基因变化的研究（主要是我们自己进行的研究）。
