Review Article

神经退行性疾病的Panomics方法

卷 26, 期 10, 2019

页: [1712 - 1720] 页: 9

弟呕挨: 10.2174/0929867324666170705120038

价格: $65

摘要

背景:分子遗传技术彻底改变了许多疾病的诊断。由于新的分子技术和信息技术的迅速改进,孟德尔遗传性疾病的数量在过去五年中迅速增加。组学时代对复杂疾病的理解和潜在的病理机制带来了根本性的变化。然而,在大多数复杂疾病中,全基因组关联研究无法澄清遗传背景,即使对于观察到非常强的遗传性的疾病也是如此。 目的:本文讨论了神经退行性疾病的变化概念。这些疾病的传统分类纯粹基于上个世纪的临床症状和形态学征兆。识别各种神经退行性疾病的特征性病变可揭示这些疾病中的常见病理途径。新的神经影像学方法提供了额外的工具来评估疾病早期阶段的体内病理途径。可视化体内淀粉样沉积物和神经炎症改善了我们对它们在各种神经退行性疾病中的作用的理解。遗传学可能是识别这些疾病背景的最精确方法。然而,只有有限数量的病例可以在病症和基因突变之间证明真正的关联。大多数神经退行性疾病似乎是多因素的,不能追溯到一个单一的原因。 结论:总之,从基于症状学的分类转变为现代多学科方法,基于不断演变的全组织学研究结果,将提高我们对神经退行性疾病的理解,并可能成为新型治疗研究的基础。

关键词: 组学,分类,神经退行性疾病,多学科方法,遗传学,成像。

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