DNA methylation study of Huntington’s disease and motor progression in patients and in animal models

Ake T. Lu, Pritika Narayan, Matthew J. Grant, Peter Langfelder, Nan Wang, Seung Kwak, Hilary Wilkinson, Richard Z. Chen, Jian Chen, C. Simon Bawden, Skye R. Rudiger, Marc Ciosi, Afroditi Chatzi, Alastair Maxwell, Timothy A. Hore, Jeff Aaronson, Jim Rosinski, Alicia Preiss, Thomas F. Vogt, Giovanni Coppola, Darren Monckton, Russell G. Snell, X. William Yang and Steve Horvath ()
Additional contact information
Ake T. Lu: University of California, Los Angeles
Pritika Narayan: The University of Auckland
Matthew J. Grant: The University of Auckland
Peter Langfelder: University of California, Los Angeles (UCLA)
Nan Wang: University of California, Los Angeles (UCLA)
Seung Kwak: CHDI Management/CHDI Foundation
Hilary Wilkinson: CHDI Management/CHDI Foundation
Richard Z. Chen: CHDI Management/CHDI Foundation
Jian Chen: CHDI Management/CHDI Foundation
C. Simon Bawden: South Australian Research and Development Institute
Skye R. Rudiger: South Australian Research and Development Institute
Marc Ciosi: College of Medical, Veterinary and Life Sciences, University of Glasgow
Afroditi Chatzi: College of Medical, Veterinary and Life Sciences, University of Glasgow
Alastair Maxwell: College of Medical, Veterinary and Life Sciences, University of Glasgow
Timothy A. Hore: University of Otago
Jeff Aaronson: CHDI Management/CHDI Foundation
Jim Rosinski: CHDI Management/CHDI Foundation
Alicia Preiss: CHDI Management/CHDI Foundation
Thomas F. Vogt: CHDI Management/CHDI Foundation
Giovanni Coppola: University of California, Los Angeles (UCLA)
Darren Monckton: College of Medical, Veterinary and Life Sciences, University of Glasgow
Russell G. Snell: The University of Auckland
X. William Yang: University of California, Los Angeles (UCLA)
Steve Horvath: University of California, Los Angeles

Nature Communications, 2020, vol. 11, issue 1, 1-15

Abstract: Abstract Although Huntington’s disease (HD) is a well studied Mendelian genetic disorder, less is known about its associated epigenetic changes. Here, we characterize DNA methylation levels in six different tissues from 3 species: a mouse huntingtin (Htt) gene knock-in model, a transgenic HTT sheep model, and humans. Our epigenome-wide association study (EWAS) of human blood reveals that HD mutation status is significantly (p

Date: 2020
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DOI: 10.1038/s41467-020-18255-5

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