Department of Neurosurgery and Pathology and Cell Biology, Columbia University, New York, New York 10032, USA.
J Neurosci. 2013 Apr 24;33(17):7439-50. doi: 10.1523/JNEUROSCI.4506-12.2013.
Alexander Disease (AxD) is a primary disorder of astrocytes, caused by heterozygous mutations in GFAP, which encodes the major astrocyte intermediate filament protein, glial fibrillary acidic protein (GFAP). Astrocytes in AxD display hypertrophy, massive increases in GFAP, and the accumulation of Rosenthal fibers, cytoplasmic protein inclusions containing GFAP, and small heat shock proteins. To study the effects of GFAP mutations on astrocyte morphology and physiology, we have examined hippocampal astrocytes in three mouse models of AxD, a transgenic line (GFAP(Tg)) in which the normal human GFAP is expressed in several copies, a knock-in line (Gfap(+/R236H)) in which one of the Gfap genes bears an R236H mutation, and a mouse derived from the mating of these two lines (GFAP(Tg); Gfap(+/R236H)). We report changes in astrocyte phenotype in all lines, with the most severe in the GFAP(Tg);Gfap(+/R236H), resulting in the conversion of protoplasmic astrocytes to cells that have lost their bushy-like morphology because of a reduction of distal fine processes, and become multinucleated and hypertrophic. Astrocytes activate the mTOR cascade, acquire CD44, and lose GLT-1. The altered astrocytes display a microheterogeneity in phenotypes, even neighboring cells. Astrocytes also show diminished glutamate transporter current, are significantly depolarized, and not coupled to adjacent astrocytes. Thus, the accumulation of GFAP in the AxD mouse astrocytes initiates a conversion of normal, protoplasmic astrocytes to astrocytes that display severely "reactive" characteristics, many of which may be detrimental to neighboring neurons and oligodendrocytes.
亚历山大病(AxD)是一种主要的星形胶质细胞疾病,由 GFAP 中的杂合突变引起,GFAP 编码主要的星形胶质细胞中间丝蛋白,胶质纤维酸性蛋白(GFAP)。AxD 中的星形胶质细胞显示出肥大、GFAP 大量增加以及 Rosenthal 纤维、含有 GFAP 的细胞质蛋白包涵体和小热休克蛋白的积累。为了研究 GFAP 突变对星形胶质细胞形态和生理学的影响,我们检查了三种 AxD 小鼠模型中的海马星形胶质细胞,一种转染系(GFAP(Tg)),其中正常的人类 GFAP 以多个拷贝表达,一种敲入系(Gfap(+/R236H)),其中一个 Gfap 基因带有 R236H 突变,以及来自这两个系交配的一只小鼠(GFAP(Tg); Gfap(+/R236H))。我们报告了所有系星形胶质细胞表型的变化,在 GFAP(Tg);Gfap(+/R236H)中最为严重,导致原浆型星形胶质细胞转化为由于远端细过程减少而失去其丛状样形态的细胞,并成为多核和肥大的细胞。星形胶质细胞激活 mTOR 级联,获得 CD44,并失去 GLT-1。改变的星形胶质细胞表现出表型的微异质性,甚至是相邻的细胞。星形胶质细胞也显示出谷氨酸转运体电流减少,明显去极化,并且与相邻的星形胶质细胞不偶联。因此,AxD 小鼠星形胶质细胞中 GFAP 的积累引发了正常原浆型星形胶质细胞向显示严重“反应性”特征的星形胶质细胞的转化,其中许多特征可能对邻近的神经元和少突胶质细胞有害。