Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety
Abstract Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This stud...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-05-01
|
| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s11689-017-9197-6 |
| _version_ | 1818292377671958528 |
|---|---|
| author | Jessica Klusek Giuseppe LaFauci Tatyana Adayev W. Ted Brown Flora Tassone Jane E. Roberts |
| author_facet | Jessica Klusek Giuseppe LaFauci Tatyana Adayev W. Ted Brown Flora Tassone Jane E. Roberts |
| author_sort | Jessica Klusek |
| collection | DOAJ |
| description | Abstract Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. Methods Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. Results Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. Conclusions Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation. |
| first_indexed | 2024-12-13T02:59:00Z |
| format | Article |
| id | doaj.art-2bddbb0dc68e44af99471c3d5de68dd4 |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-12-13T02:59:00Z |
| publishDate | 2017-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-2bddbb0dc68e44af99471c3d5de68dd42022-12-22T00:01:53ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552017-05-019111610.1186/s11689-017-9197-6Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxietyJessica Klusek0Giuseppe LaFauci1Tatyana Adayev2W. Ted Brown3Flora Tassone4Jane E. Roberts5Department of Communication Sciences and Disorders, University of South CarolinaDepartment of Developmental Biochemistry, New York State Institute for Basic Research in Developmental DisabilitiesDepartment of Developmental Biochemistry, New York State Institute for Basic Research in Developmental DisabilitiesDepartment of Human Genetics, New York State Institute for Basic Research in Developmental DisabilitiesUC Davis MIND Institute, University of California DavisDepartment of Psychology, University of South CarolinaAbstract Background Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. Methods Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. Results Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. Conclusions Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation.http://link.springer.com/article/10.1186/s11689-017-9197-6Fragile X carriersVagal toneHeart ratePhysiological arousalFMRPFMR1 mRNA |
| spellingShingle | Jessica Klusek Giuseppe LaFauci Tatyana Adayev W. Ted Brown Flora Tassone Jane E. Roberts Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety Journal of Neurodevelopmental Disorders Fragile X carriers Vagal tone Heart rate Physiological arousal FMRP FMR1 mRNA |
| title | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety |
| title_full | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety |
| title_fullStr | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety |
| title_full_unstemmed | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety |
| title_short | Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety |
| title_sort | reduced vagal tone in women with the fmr1 premutation is associated with fmr1 mrna but not depression or anxiety |
| topic | Fragile X carriers Vagal tone Heart rate Physiological arousal FMRP FMR1 mRNA |
| url | http://link.springer.com/article/10.1186/s11689-017-9197-6 |
| work_keys_str_mv | AT jessicaklusek reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety AT giuseppelafauci reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety AT tatyanaadayev reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety AT wtedbrown reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety AT floratassone reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety AT janeeroberts reducedvagaltoneinwomenwiththefmr1premutationisassociatedwithfmr1mrnabutnotdepressionoranxiety |