Ichinose H, Inagaki H, Suzuki T, Ohye T, Nagatsu T
Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, 470-1192, Aichi, Japan.
Brain Dev. 2000 Sep;22 Suppl 1:S107-10. doi: 10.1016/s0387-7604(00)00136-4.
The causative gene for hereditary progressive dystonia with marked diurnal fluctuation/dopa-responsive dystonia (HPD/DRD) was discovered in 1994 to be guanosine triphosphate (GTP) cyclohydrolase I, an enzyme involved in tetrahydrobiopterin biosynthesis. To the present, more than 50 mutations have been found in this gene in HPD/DRD patients. Although it is clear that HPD/DRD is caused by partial deficiency of tetrahydrobiopterin in the brain, several important issues regarding the molecular etiology of HPD/DRD remain to be addressed. We review herein the recent progress in the molecular genetics of HPD/DRD and clarify the points to be answered.
1994年发现，伴有明显昼夜波动的遗传性进行性肌张力障碍/多巴反应性肌张力障碍（HPD/DRD）的致病基因是鸟苷三磷酸（GTP）环化水解酶I，该酶参与四氢生物蝶呤的生物合成。到目前为止，在HPD/DRD患者的该基因中已发现50多种突变。虽然很明显HPD/DRD是由大脑中四氢生物蝶呤部分缺乏引起的，但关于HPD/DRD分子病因的几个重要问题仍有待解决。我们在此回顾HPD/DRD分子遗传学的最新进展，并阐明有待解答的问题。
