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. 2017 May 2:9:16.
doi: 10.1186/s11689-017-9197-6. eCollection 2017.

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Jessica Klusek  1 , Giuseppe LaFauci  2 , Tatyana Adayev  2 , W Ted Brown  3 , Flora Tassone  4 , Jane E Roberts  5
Affiliations

Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety

Jessica Klusek et al. J Neurodev Disord. .

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.

Keywords: FMR1 mRNA; FMRP; Fragile X carriers; Heart rate; Physiological arousal; Vagal tone.

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Figures

Fig. 1
Fig. 1
Group comparisons on respiratory sinus arrhythmia and inter-beat interval. Note: Figures present model-adjusted values, controlling for age, medication use, and parenting stress level. Untransformed IBI values are depicted for graphical representation. Boxes indicate data between the 25th and 75th percentile, with the horizontal bar reflecting the median (whiskers = the highest and lowest cases within the interquartile range; open circles = outliers, defined as cases falling greater than 1.5 times outside the interquartile range)
Fig. 2
Fig. 2
Differential associations between respiratory sinus arrhythmia and depression symptom severity across groups. Note: Model-adjusted values are depicted, controlling for age, medication use, and parenting stress level
Fig. 3
Fig. 3
Association between FMR1  messenger RNA and respiratory sinus arrhythmia in women with the FMR1 premutation. Note: Model-adjusted values are presented, controlling for age, medication use, and parenting stress level
See this image and copyright information in PMC

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