TY - JOUR
T1 - RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease
AU - Andrade-Navarro, Miguel A.
AU - Mühlenberg, Katja
AU - Spruth, Eike J.
AU - Mah, Nancy
AU - González-López, Adrián
AU - Andreani, Tommaso
AU - Russ, Jenny
AU - Huska, Matthew R.
AU - Muro, Enrique M.
AU - Fontaine, Jean Fred
AU - Amstislavskiy, Vyacheslav
AU - Soldatov, Alexei
AU - Nietfeld, Wilfried
AU - Wanker, Erich E.
AU - Priller, Josef
N1 - Publisher Copyright:
© Copyright © 2020 Andrade-Navarro, Mühlenberg, Spruth, Mah, González-López, Andreani, Russ, Huska, Muro, Fontaine, Amstislavskiy, Soldatov, Nietfeld, Wanker and Priller.
PY - 2020/11/27
Y1 - 2020/11/27
N2 - 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.
AB - 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.
KW - Huntington's disease
KW - RNA-Seq
KW - differential gene expression
KW - disease markers
KW - inflammation
UR - http://www.scopus.com/inward/record.url?scp=85099072640&partnerID=8YFLogxK
U2 - 10.3389/fneur.2020.573560
DO - 10.3389/fneur.2020.573560
M3 - Article
AN - SCOPUS:85099072640
SN - 1664-2295
VL - 11
JO - Frontiers in Neurology
JF - Frontiers in Neurology
M1 - 573560
ER -
