RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease.
RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease.
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DOI：
10.3389/fneur.2020.573560
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发表时间：
2020
影响因子：
3.4
通讯作者：
Priller J
中科院分区：
文献类型：
--
作者：
Andrade-Navarro MA;Mühlenberg K;Spruth EJ;Mah N;González-López A;Andreani T;Russ J;Huska MR;Muro EM;Fontaine JF;Amstislavskiy V;Soldatov A;Nietfeld W;Wanker EE;Priller J
亨廷顿病（Huntington's disease，HD）是一种由亨廷顿基因三核苷酸重复扩增引起的常染色体显性遗传性神经退行性疾病。由于正在开发HD的疾病修饰疗法，外周血细胞可用于指示疾病进展和监测治疗反应。为了研究在HD患者的血液中是否可以发现基因表达变化，以将其与健康对照区分开来，我们通过下一代测序（RNA-seq）进行了转录组分析。我们检测到与HD病例与对照组外周血中免疫相关功能和炎症反应失调一致的基因表达特征，包括干扰素反应基因IFITM 3、IFI 6和IRF 7的诱导。我们的研究结果表明，有可能检测血液样本中的基因表达变化与HD，这可能反映了与疾病相关的免疫病理学。
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the Huntingtin gene. As disease-modifying therapies for HD are being developed, peripheral blood cells may be used to indicate disease progression and to monitor treatment response. In order to investigate whether gene expression changes can be found in the blood of individuals with HD that distinguish them from healthy controls, we performed transcriptome analysis by next-generation sequencing (RNA-seq). We detected a gene expression signature consistent with dysregulation of immune-related functions and inflammatory response in peripheral blood from HD cases vs. controls, including induction of the interferon response genes, IFITM3, IFI6 and IRF7. Our results suggest that it is possible to detect gene expression changes in blood samples from individuals with HD, which may reflect the immune pathology associated with the disease.
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