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Article

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation.

Nature communications - 15 Sept 2023

Li Junhao, Jaiswal Manoj K, Chien Jo-Fan, Kozlenkov Alexey, Jung Jinyoung, Zhou Ping, Gardashli Mahammad, Pregent Luc J, Engelberg-Cook Erica, Dickson Dennis W, Belzil Veronique V, Mukamel Eran A, Dracheva Stella

Abstract excerpt

A repeat expansion in the C9orf72 (C9) gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate single nucleus transcriptomics (snRNA-seq) and epigenomics (snATAC-seq) in postmortem motor and frontal cortices from C9-ALS, C9-FTD, and control donors. C9-ALS donors present pervasive alterations of gene expression with concordant changes in...

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Identifiers

PMID: 37714849
DOI: 10.1038/s41467-023-41033-y
PMCID: PMC10504300

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