title: Aberrant DNA Methylation of rDNA and PRIMA1 in Borderline Personality Disorder.
abstract: Borderline personality disorder (BPD) is a serious psychic disease with a high risk for suicide. DNA methylation is a hallmark for aberrant epigenetic regulation and could be involved in the etiology of BPD. Previously, it has been reported that increased DNA methylation of neuropsychiatric genes is found in the blood of patients with BPD compared to healthy controls. Here, we analyzed DNA methylation patterns of the ribosomal RNA gene (rDNA promoter region and 5'-external transcribed spacer/5'ETS) and the promoter of the proline rich membrane anchor 1 gene (PRIMA1) in peripheral blood samples of 24 female patients (mean age (33 ± 11) years) diagnosed with DSM-IV BPD and in 11 female controls (mean age (32 ± 7) years). A significant aberrant methylation of rDNA and PRIMA1 was revealed for BPD patients using pyrosequencing. For the promoter of PRIMA1, the average methylation of six CpG sites was 1.6-fold higher in BPD patients compared to controls. In contrast, the methylation levels of the rDNA promoter region and the 5'ETS were significantly lower (0.9-fold) in patients with BPD compared to controls. Thus, for nine CpGs located in the rDNA promoter region and for four CpGs at the 5'ETS decreased methylation was found in peripheral blood of patients compared to controls. Our results suggest that aberrant methylation of rDNA and PRIMA1 is associated with the pathogenesis of BPD.
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen, Germany. stefanie.teschler@gen.bio.uni-giessen.de.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Teschler
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen, Germany. Julia.Gotthardt@bio.uni-giessen.de.
authors.forename: Julia
authors.initials: J
authors.lastname: Gotthardt
authors.affiliation: Psychiatric Hospital, Psychiatric Services of Thurgovia, CH-8596 Münsterlingen, Switzerland and Department of Psychiatry, Paracelsus Medical University, A-5020 Salzburg, Austria. gerhard.dammann@stgag.ch.
authors.forename: Gerhard
authors.initials: G
authors.lastname: Dammann
authors.affiliation: Institute for Genetics, Justus-Liebig-University Giessen, D-35392 Giessen, Germany. reinhard.dammann@gen.bio.uni-giessen.de.
authors.forename: Reinhard H
authors.initials: RH
authors.lastname: Dammann
mesh_terms: D000293:Adolescent; D000328:Adult; D001883:Borderline Personality Disorder / Q000235:genetics* / Q000473:pathology; D018899:CpG Islands; D019175:DNA Methylation; D004275:DNA, Ribosomal / Q000235:genetics*; D044127:Epigenesis, Genetic; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011401:Promoter Regions, Genetic; D055815:Young Adult
chemical_list: D004275:DNA, Ribosomal; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C446290:PRIMA1 protein, human
keywords: DNA methylation; borderline personality disorder; epigenetics; proline rich membrane anchor gene; ribosomal RNA gene