Journal Article

DZNE-2022-00960

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png RNA Sequencing of Human Peripheral Blood Cells Indicates Upregulation of Immune-Related Genes in Huntington's Disease.

Andrade-Navarro, M. A. ; Mühlenberg, K. ; Spruth, E. J.Extern* ; Mah, N. ; González-López, A. ; Andreani, T. ; Russ, J.DZNE* ; Huska, M. R. ; Muro, E. M. ; Fontaine, J.-F. ; Amstislavskiy, V. ; Soldatov, A. ; Nietfeld, W. ; Wanker, E. E.DZNE* ; Priller, J. (Last author)DZNE*

2020
Frontiers Research Foundation Lausanne

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Please use a persistent id in citations: doi:10.3389/fneur.2020.573560

Abstract: 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.

Keyword(s): Huntington's disease ; RNA-Seq ; differential gene expression ; disease markers ; inflammation

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Contributing Institute(s):

1. Clinical Study Team Berlin Priller (Clinical Study Team Berlin 1)
2. Nuclear function in CNS pathophysiology (AG Salomoni)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2020

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