Tienari P J
Department of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Ann Med. 1994 Aug;26(4):259-69. doi: 10.3109/07853899409147901.
Multiple sclerosis is a chronic inflammatory disease characterized by multifocal damage of the central nervous system myelin. Both humoral and cell-mediated immune abnormalities have been observed in patients with multiple sclerosis, but their relation to the demyelination process is not understood. The etiology of the disease is still unknown; however, evidence exists for an interplay between environmental and genetic factors. Several genes are involved in determining the disease susceptibility, at least one of them encoded within human leukocyte antigen gene complex. Other genomic regions coding for components of the immune system or myelin have also been suggested. Clinical, immunological and genetic data suggest that multiple sclerosis may turn out to be a heterogeneous disease. Therefore, molecular genetic dissection of this complex disease should provide important clues to its pathogenesis as well as unravel metabolic pathways for potential therapeutic or preventive strategies. This review will give an overview of recent progress and future challenges in identifying susceptibility genes for multiple sclerosis.
多发性硬化症是一种慢性炎症性疾病，其特征是中枢神经系统髓鞘发生多灶性损伤。在多发性硬化症患者中已观察到体液免疫和细胞介导的免疫异常，但它们与脱髓鞘过程的关系尚不清楚。该疾病的病因仍然未知；然而，有证据表明环境因素和遗传因素之间存在相互作用。有几个基因参与决定疾病易感性，其中至少有一个基因编码在人类白细胞抗原基因复合物中。也有人提出了其他编码免疫系统或髓鞘成分的基因组区域。临床、免疫学和遗传学数据表明，多发性硬化症可能是一种异质性疾病。因此，对这种复杂疾病进行分子遗传学剖析应能为其发病机制提供重要线索，并揭示潜在治疗或预防策略的代谢途径。本综述将概述在确定多发性硬化症易感基因方面的最新进展和未来挑战。
