Milani Pamela, Gagliardi Stella, Cova Emanuela, Cereda Cristina
Laboratory of Experimental Neurobiology, IRCCS, National Neurological Institute "C. Mondino," Via Mondino 2, 27100 Pavia, Italy.
Neurol Res Int. 2011;2011:458427. doi: 10.1155/2011/458427. Epub 2011 Apr 17.
Copper-zinc superoxide dismutase (SOD1) is a detoxifying enzyme localized in the cytosol, nucleus, peroxisomes, and mitochondria. The discovery that mutations in SOD1 gene cause a subset of familial amyotrophic lateral sclerosis (FALS) has attracted great attention, and studies to date have been mainly focused on discovering mutations in the coding region and investigation at protein level. Considering that changes in SOD1 mRNA levels have been associated with sporadic ALS (SALS), a molecular understanding of the processes involved in the regulation of SOD1 gene expression could not only unravel novel regulatory pathways that may govern cellular phenotypes and changes in diseases but also might reveal therapeutic targets and treatments. This review seeks to provide an overview of SOD1 gene structure and of the processes through which SOD1 transcription is controlled. Furthermore, we emphasize the importance to focus future researches on investigating posttranscriptional mechanisms and their relevance to ALS.
铜锌超氧化物歧化酶（SOD1）是一种定位于胞质溶胶、细胞核、过氧化物酶体和线粒体的解毒酶。SOD1基因突变会导致一部分家族性肌萎缩侧索硬化症（FALS），这一发现引起了广泛关注，迄今为止的研究主要集中在发现编码区的突变以及蛋白质水平的研究。鉴于SOD1 mRNA水平的变化与散发性肌萎缩侧索硬化症（SALS）有关，对SOD1基因表达调控过程的分子理解不仅可以揭示可能控制细胞表型和疾病变化的新调控途径，还可能揭示治疗靶点和治疗方法。这篇综述旨在概述SOD1基因结构以及SOD1转录的控制过程。此外，我们强调未来研究应着重于研究转录后机制及其与肌萎缩侧索硬化症的相关性。
