Department of Clinical Neuroscience, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden.
Neuromolecular Med. 2012 Mar;14(1):15-29. doi: 10.1007/s12017-011-8164-8. Epub 2011 Dec 8.
A large number of molecular pathways have been implicated in the degeneration of axotomized motoneurons. We previously have demonstrated substantial differences in the survival rate of axotomized motoneurons across different rat strains. Identification of genetic differences underlying such naturally occurring strain differences is a powerful approach, also known as forward genetics, to gain knowledge of mechanisms relevant for complex diseases, like injury-induced neurodegeneration. Overlapping congenic rat strains were used to fine map a gene region on rat chromosome eight previously shown to regulate motoneuron survival after ventral root avulsion. The smallest genetic fragment, R5, contains 35 genes and displays a highly significant regulatory effect on motoneuron survival. Furthermore, expression profiling in a F2(DAxPVG) intercross demonstrates one single cis-regulated gene within the R5 fragment; Gsta4, encoding glutathione S-transferase alpha-4. Confirmation with real-time PCR shows higher Gsta4 expression in PVG compared with DA both in naïve animals and at several time points after injury. Immunolabeling with a custom made rat Gsta4 antibody demonstrates a neuronal staining pattern, with a strong cytoplasmic labeling of motoneurons. These results demonstrate and map naturally occurring genetic differences in the expression of Gsta4 is associated both with a highly significant increase in the survival of axotomized motoneurons and with a trans-regulation of several molecular pathways involved in neurodegenerative processes. This adds to a large body of evidence implicating lipid peroxidation as an important pathway for neurodegeneration.
大量的分子途径被牵连到被切断轴突的运动神经元的退化中。我们之前已经证明了不同大鼠品系的被切断轴突的运动神经元的存活率有很大的差异。鉴定这种自然发生的品系差异背后的遗传差异是一种强大的方法,也称为正向遗传学,以了解与复杂疾病相关的机制,如损伤诱导的神经退行性变。重叠的近交系大鼠被用来精细定位先前显示调节腹根切断后运动神经元存活的大鼠 8 号染色体上的基因区域。最小的遗传片段 R5 包含 35 个基因,对运动神经元的存活有显著的调节作用。此外,在 F2(DAxPVG)杂交中进行的表达谱分析表明,R5 片段内只有一个顺式调节基因;Gsta4,编码谷胱甘肽 S-转移酶 alpha-4。实时 PCR 的验证显示,在未受伤的动物和受伤后的几个时间点,PVG 中的 Gsta4 表达都明显高于 DA。用定制的大鼠 Gsta4 抗体进行免疫标记显示出神经元染色模式,运动神经元的细胞质标记强烈。这些结果表明并定位了 Gsta4 表达的自然遗传差异与被切断轴突的运动神经元存活率的显著增加以及涉及神经退行性过程的几个分子途径的转录调节有关。这增加了大量的证据表明脂质过氧化作为神经退行性变的一个重要途径。