Andrade-Navarro Miguel A, Mühlenberg Katja, Spruth Eike J, Mah Nancy, González-López Adrián, Andreani Tommaso, Russ Jenny, Huska Matthew R, Muro Enrique M, Fontaine Jean-Fred, Amstislavskiy Vyacheslav, Soldatov Alexei, Nietfeld Wilfried, Wanker Erich E, Priller Josef
Faculty of Biology, Institute of Organismic and Molecular Evolution, Johannes Gutenberg University Mainz, Mainz, Germany.
Neuroproteomics, Max-Delbrück Center for Molecular Medicine, Berlin, Germany.
Front Neurol. 2020 Nov 27;11:573560. doi: 10.3389/fneur.2020.573560. eCollection 2020.
Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the 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, and . 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.
亨廷顿舞蹈症（HD）是一种常染色体显性遗传的神经退行性疾病，由该基因中的三核苷酸重复扩增引起。随着针对HD的疾病修饰疗法的开发，外周血细胞可用于指示疾病进展并监测治疗反应。为了研究在HD个体的血液中是否能发现与健康对照者不同的基因表达变化，我们通过下一代测序（RNA测序）进行了转录组分析。我们检测到HD病例与对照者外周血中与免疫相关功能失调和炎症反应一致的基因表达特征，包括干扰素反应基因、 和 的诱导。我们的结果表明，有可能检测到HD个体血样中的基因表达变化，这可能反映了与该疾病相关的免疫病理学。
