Chen Philip, Peng Cheng, Luff John, Spring Kevin, Watters Dianne, Bottle Steven, Furuya Shigeki, Lavin Martin F
The Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, Queensland 4029, Australia.
J Neurosci. 2003 Dec 10;23(36):11453-60. doi: 10.1523/JNEUROSCI.23-36-11453.2003.
Atm gene-disrupted mice recapitulate the majority of characteristics observed in patients with the genetic disorder ataxia-telangiectasia (A-T). However, although they exhibit defects in neuromotor function and a distinct neurological phenotype, they do not show the progressive neurodegeneration seen in human patients, but there is evidence that ataxia-telangiectasia mutated (Atm)-deficient animals have elevated levels of oxidized macromolecules and some neuropathology. We report here that in vitro survival of cerebellar Purkinje cells from both Atm "knock-out" and Atm "knock-in" mice was significantly reduced compared with their wild-type littermates. Although most of the Purkinje neurons from wild-type mice exhibited extensive dendritic elongation and branching under these conditions, most neurons from Atm-deficient mice had dramatically reduced dendritic branching. An antioxidant (isoindoline nitroxide) prevented Purkinje cell death in Atm-deficient mice and enhanced dendritogenesis to wild-type levels. Furthermore, administration of the antioxidant throughout pregnancy had a small enhancing effect on Purkinje neuron survival in Atm gene-disrupted animals and protected against oxidative stress in older animals. These data provide strong evidence for a defect in the cerebellum of Atm-deficient mice and suggest that oxidative stress contributes to this phenotype.
Atm基因敲除小鼠重现了遗传性共济失调毛细血管扩张症(A-T)患者中观察到的大多数特征。然而,尽管它们表现出神经运动功能缺陷和独特的神经表型,但并未出现人类患者中所见的进行性神经退行性变,不过有证据表明,Atm基因缺陷的动物氧化大分子水平升高且存在一些神经病理学改变。我们在此报告,与野生型同窝小鼠相比,Atm“敲除”和Atm“敲入”小鼠的小脑浦肯野细胞在体外的存活率均显著降低。尽管在这些条件下,大多数野生型小鼠的浦肯野神经元表现出广泛的树突伸长和分支,但Atm基因缺陷小鼠的大多数神经元树突分支显著减少。一种抗氧化剂(异吲哚啉氮氧化物)可防止Atm基因缺陷小鼠的浦肯野细胞死亡,并将树突形成增强至野生型水平。此外,在整个孕期给予抗氧化剂对Atm基因敲除动物的浦肯野神经元存活有轻微的增强作用,并能保护老年动物免受氧化应激。这些数据为Atm基因缺陷小鼠的小脑缺陷提供了有力证据,并表明氧化应激导致了这种表型。