Evaluating epigenetic landmarks in the brain of multiple sclerosis patients: a contribution to the current debate on disease pathogenesis.
Evaluating epigenetic landmarks in the brain of multiple sclerosis patients: a contribution to the current debate on disease pathogenesis.
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DOI：
10.1016/j.pneurobio.2008.09.012
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发表时间：
2008-12-11
影响因子：
6.7
通讯作者：
Mastronardi, Fabrizio
中科院分区：
文献类型：
--
作者：
Casaccia-Bonnefil, Patrizia;Pandozy, Gicivanna;Mastronardi, Fabrizio
表观遗传学在定义复杂性状疾病中的作用的证据正在迅速增加。多发性硬化症的性别患病率，纯合子双胞胎的低水平一致性以及与几个遗传位点的联系，表明这种脱髓鞘疾病的定义存在表观遗传学成分。虽然疾病进展的免疫病因机制已经有了很好的特征，但对脱髓鞘损伤的发生和发展的初始事件仍然知之甚少。本文提出了一个具有挑战性的问题，即髓鞘细胞基因表达的表观遗传调控机制的丧失是否可能通过影响修复过程和调节参与新表位形成的酶的水平而参与多发性硬化症的发病。核小体组蛋白的翻译后修饰和DNA甲基化在白质少突胶质细胞中的作用从发病机制的角度进行了阐述，并讨论了其与治疗干预的相关性。
The evidence suggesting a role of epigenetics in the definition of complex trait diseases is rapidly increasing. The gender prevalence of multiple sclerosis, the low level concordance in homozygous twins and the linkage to several genetic loci, suggest an epigenetic component to the definition of this demyelinating disorder. While the immune etio-pathogenetic mechanism of disease progression has been well characterized, still relatively little is known about the initial events contributing to onset and progression of the demyelinating lesion. This article addresses the challenging question of whether loss of the mechanisms of epigenetic regulation of gene expression in the myelinating cells may contribute to the pathogenesis of multiple sclerosis, by affecting the repair process and by modulating the levels of enzymes involved in neo-epitope formation. The role of altered post-translational modifications of nucleosomal histones and DNA methylation in white matter oligodendroglial cells are presented in terms of pathogenetic concepts and the relevance to therapeutic intervention is then discussed.
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