Genomics Research Centre, School of Medical Science, Griffith University Gold Coast, Southport, Queensland, 4215 Australia.
Curr Genomics. 2007 May;8(3):181-9. doi: 10.2174/138920207780833829.
Multiple sclerosis (MS) is a serious neurological disorder affecting young Caucasian individuals, usually with an age of onset at 18 to 40 years old. Females account for approximately 60x of MS cases and the manifestation and course of the disease is highly variable from patient to patient. The disorder is characterised by the development of plaques within the central nervous system (CNS). Many gene expression studies have been undertaken to look at the specific patterns of gene transcript levels in MS. Human tissues and experimental mice were used in these gene-profiling studies and a very valuable and interesting set of data has resulted from these various expression studies. In general, genes showing variable expression include mainly immunological and inflammatory genes, stress and antioxidant genes, as well as metabolic and central nervous system markers. Of particular interest are a number of genes localised to susceptible loci previously shown to be in linkage with MS. However due to the clinical complexity of the disease, the heterogeneity of the tissues used in expression studies, as well as the variable DNA chips/membranes used for the gene profiling, it is difficult to interpret the available information. Although this information is essential for the understanding of the pathogenesis of MS, it is difficult to decipher and define the gene pathways involved in the disorder. Experiments in gene expression profiling in MS have been numerous and lists of candidates are now available for analysis. Researchers have investigated gene expression in peripheral mononuclear white blood cells (PBMCs), in MS animal models Experimental Allergic Encephalomyelitis (EAE) and post mortem MS brain tissues. This review will focus on the results of these studies.
多发性硬化症(MS)是一种影响年轻白种人群体的严重神经系统疾病,通常发病年龄在 18 至 40 岁之间。女性约占 MS 病例的 60 倍,且疾病的表现和病程在患者之间差异很大。该疾病的特征是中枢神经系统(CNS)内斑块的形成。许多基因表达研究已经进行,以观察 MS 中基因转录水平的特定模式。这些基因谱研究使用了人类组织和实验小鼠,并从这些各种表达研究中产生了非常有价值和有趣的数据集。一般来说,表现出可变表达的基因主要包括免疫和炎症基因、应激和抗氧化基因以及代谢和中枢神经系统标志物。特别有趣的是一些定位于易感基因座的基因,这些基因座先前与 MS 相关联。然而,由于疾病的临床复杂性、表达研究中使用的组织异质性以及用于基因谱分析的可变 DNA 芯片/膜,解释可用信息具有一定难度。尽管这些信息对于理解 MS 的发病机制至关重要,但难以解读和定义该疾病中涉及的基因途径。MS 中的基因表达谱实验数量众多,现在可以分析候选基因列表。研究人员已经研究了外周单核白细胞(PBMCs)、MS 动物模型实验性过敏性脑脊髓炎(EAE)和死后 MS 脑组织中的基因表达。本综述将重点介绍这些研究的结果。