Miyata Rie, Hayashi Masaharu, Tanuma Naoyuki, Shioda Kei, Fukatsu Ryou, Mizutani Shuki
Department of Pediatrics, Tokyo Kita Shakai Hoken Hospital, 4-17-56 Akabanedai, Kita-ku, Tokyo 115-0053, Japan.
J Neurol Sci. 2008 Jan 15;264(1-2):133-9. doi: 10.1016/j.jns.2007.08.025. Epub 2007 Oct 18.
Dentatorubral-pallidoluysian atrophy (DRPLA) is one of the CAG-repeat diseases, and is classified into juvenile and early adult types showing progressive myoclonus epilepsy (PME) in addition to late adult type. We immunohistochemically examined accumulation of oxidative products and expression of superoxide dismutase (SOD) in autopsy cases of DRPLA. Oxidative products to nucleosides, 8-hydroxy-2'-deoxyguanosine and 8-hydroxyguanosine, were accumulated in the lenticulate nucleus predominantly in DRPLA cases having PME. Neuronal accumulation of 4-hydroxy nonenal, a reactive lipid aldehyde, was found in the hippocampus, globus pallidus and cerebellar dentate nucleus in adult DRPLA cases and controls. Cytoplasmic immunoreactivity for Cu/ZnSOD was reduced in the external segment of globus pallidus, dentate nucleus and cerebellar cortex in DRPLA cases. Mitochondrial immunoreactivity for MnSOD was reduced in the lenticulate nucleus and cerebellum in DRPLA cases having PME. Some DRPLA cases showed reduced immunoreactivity for MnSOD in the cerebral cortex. Coexistence of reduced SOD expression and polyglutamine was observed in a few cases. It has been discussed in Huntington's disease that expanded polyglutamine can lead to oxidative neurodegeneration. It is likely that oxidative stress can be involved in DRPLA, although relationship with expanded polyglutamine remains to be elusive.
齿状核红核苍白球路易体萎缩症(DRPLA)是一种CAG重复疾病,分为青少年型和成年早期型,除成年晚期型外还表现为进行性肌阵挛癫痫(PME)。我们对DRPLA尸检病例中氧化产物的积累和超氧化物歧化酶(SOD)的表达进行了免疫组织化学检查。在主要患有PME的DRPLA病例中,核苷的氧化产物8-羟基-2'-脱氧鸟苷和8-羟基鸟苷在豆状核中积累。在成年DRPLA病例和对照中,在海马体、苍白球和小脑齿状核中发现了反应性脂质醛4-羟基壬烯醛的神经元积累。在DRPLA病例中,苍白球外侧段、齿状核和小脑皮质中铜/锌超氧化物歧化酶的细胞质免疫反应性降低。在患有PME的DRPLA病例中,豆状核和小脑中锰超氧化物歧化酶的线粒体免疫反应性降低。一些DRPLA病例在大脑皮质中表现出锰超氧化物歧化酶的免疫反应性降低。在少数病例中观察到超氧化物歧化酶表达降低和多聚谷氨酰胺共存。在亨廷顿舞蹈病中已经讨论过,扩展的多聚谷氨酰胺可导致氧化性神经变性。尽管与扩展的多聚谷氨酰胺的关系仍不明确,但氧化应激可能参与了DRPLA。