-
Autor
Boesch, Sylvia 1 Borggraefe, Ingo 1 Brunet, Theresa 1 Gieger, Christian 1 Hackenberg, Annette 1 Hoefele, Julia 1 Jech, Robert 1 Kotzaeridou, Urania 1 Maier, Esther M 1 Meitinger, Thomas 1 Mirza-Schreiber, Nazanin 1 Mollenhauer, Brit 1 Necpál, Ján 1 Oexle, Konrad 1 Peters, Annette 1 Pilshofer, Veronika 1 Schormair, Barbara 1 Schwaibold, Eva Maria Christina 1 Trenkwalder, Claudia 1 Vill, Katharina 1
-
Pracoviště
Chair of Epidemiology Institute for M... 1 Chair of Neurogenetics Technical Univ... 1 Department of Child Neurology and Met... 1 Department of Neurology Asklepios Fac... 1 Department of Neurology Charles Unive... 1 Department of Neurology Medizinische ... 1 Department of Neurology P J Safarik U... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neurology Zvolen Hospit... 1 Department of Pediatric Neurology Uni... 1 Dr von Hauner Children's Hospital Lud... 1 German Center for Diabetes Research 8... 1 Institute of Epidemiology Helmholtz Z... 1 Institute of Human Genetics Heidelber... 1 Institute of Human Genetics Technical... 1 Institute of Neurogenomics Helmholtz ... 1 Munich Cluster for Systems Neurology ... 1 Neurogenetic Systems Analysis Group I... 1 Ordensklinikum Linz Barmherzige Schwe... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Autor
Boesch, Sylvia 1 Borggraefe, Ingo 1 Brunet, Theresa 1 Gieger, Christian 1 Hackenberg, Annette 1 Hoefele, Julia 1 Jech, Robert 1 Kotzaeridou, Urania 1 Maier, Esther M 1 Meitinger, Thomas 1 Mirza-Schreiber, Nazanin 1 Mollenhauer, Brit 1 Necpál, Ján 1 Oexle, Konrad 1 Peters, Annette 1 Pilshofer, Veronika 1 Schormair, Barbara 1 Schwaibold, Eva Maria Christina 1 Trenkwalder, Claudia 1 Vill, Katharina 1
-
Pracoviště
Chair of Epidemiology Institute for M... 1 Chair of Neurogenetics Technical Univ... 1 Department of Child Neurology and Met... 1 Department of Neurology Asklepios Fac... 1 Department of Neurology Charles Unive... 1 Department of Neurology Medizinische ... 1 Department of Neurology P J Safarik U... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neurology Zvolen Hospit... 1 Department of Pediatric Neurology Uni... 1 Dr von Hauner Children's Hospital Lud... 1 German Center for Diabetes Research 8... 1 Institute of Epidemiology Helmholtz Z... 1 Institute of Human Genetics Heidelber... 1 Institute of Human Genetics Technical... 1 Institute of Neurogenomics Helmholtz ... 1 Munich Cluster for Systems Neurology ... 1 Neurogenetic Systems Analysis Group I... 1 Ordensklinikum Linz Barmherzige Schwe... 1
- Formát
- Publikační typ
- Check Tag
- Kategorie
- Jazyk
- Země
- Časopis/zdroj
- Dostupnost
- Vlastník
-
Mirza-Schreiber, Nazanin
Autor Mirza-Schreiber, Nazanin ORCID Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany Neurogenetic Systems Analysis Group, Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany
- Zech, Michael
- Wilson, Rory
- Brunet, Theresa
- Wagner, Matias
- Jech, Robert
- Boesch, Sylvia
- Škorvánek, Matej
- Necpál, Ján
- Weise, David
Open Access Digital Library od 1996-01-01
PubMed
34590685
DOI
10.1093/brain/awab360
Knihovny.cz E-zdroje
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 and at least 1× log-fold change of methylation. This classifier was accurate both when tested on the general population and on samples with various other deficiencies of the epigenetic machinery, thus allowing for definitive evaluation of variants of uncertain significance and identifying patients who may profit from deep brain stimulation, a highly successful treatment in KMT2B-deficient dystonia. Methylation was increased in KMT2B deficiency at all 113 CpG sites. The coefficients of variation of the normalized methylation levels at these sites also perfectly classified the samples with KMT2B-deficient dystonia. Moreover, the mean of the normalized methylation levels correlated well with the age at onset of dystonia (P = 0.003)-being lower in samples with late or incomplete penetrance-thus serving as a predictor of disease onset and severity. Similarly, it may also function in monitoring the recently envisioned treatment of KMT2B deficiency by inhibition of DNA methylation.
Sdílet
Název dokumentu
Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.