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Title:

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Document type:
Journal Article
Author(s):
Mirza-Schreiber, Nazanin; Zech, Michael; Wilson, Rory; Brunet, Theresa; Wagner, Matias; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Necpál, Ján; Weise, David; Weber, Sandrina; Mollenhauer, Brit; Trenkwalder, Claudia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Hackenberg, Annette; Pilshofer, Veronika; Kotzaeridou, Urania; Schwaibold, Eva Maria Christina; Hoefele, Julia; Waldenberger, Melanie; Gieger, Christian; Peters, Annette; Meitinger, Thomas; Schormair, Barbara; Winkelmann, Julia...     »
Abstract:
Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is reported for histone lysine methyltransferase (KMT2B)-deficient dystonia, a leading subtype among the individually rare monogenic dystonias. It was derived by applying a support vector machine to an episignature of 113 DNA CpG sites, which, in blood cells, showed significant epigenome-wide association with KMT2B deficiency...     »
Journal title abbreviation:
Brain
Year:
2022
Journal volume:
145
Journal issue:
2
Pages contribution:
644-654
Fulltext / DOI:
doi:10.1093/brain/awab360
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34590685
Print-ISSN:
0006-8950
TUM Institution:
611; 656; Institut für Humangenetik (Prof. Winkelmann); Lehrstuhl für Neurogenetik (N.N.)
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