Adibi, P. | bioRxiv Science

bioRxiv2026

Sleep complaints in alexithymia reflect non-specific negative affectivity

Alexithymia is the inability to identify and describe emotions, associated with an increased risk of somatic and psychiatric disease. Alexithymia is also characterized by reduced subjective sleep quality. However, it is not well-known if this reduction in sleep quality reflects physiological changes in sleep, a specific alteration in perceived sleep quality not captured by objective metrics, or a non-specific spillover of the negative affective style which characterizes alexithymia. In BSETS, a large (N=228) EEG study of naturalistic sleep, we found that alexithymia symptoms are associated with worse habitual (AIS) and current (GSQS) subjective sleep quality ({beta}AIS=0.207, pAIS=0.002, {beta}GSQS=0.203, pGSQS=0.002). However, we observed no significant association between alexithymia and EEG-based sleep efficiency ({beta}=- 0.017, p=0.791). The association with subjective sleep quality was almost completely attenuated when controlling for either depressive symptoms (PHQ-9, {beta}AIS=0.001, pAIS=0.982, {beta}GSQS=0.044, pGSQS=0.486) or trait neuroticism (ZKPQ, BFI-44, {beta}AIS=0.057, pAIS=0.442, {beta}GSQS=0.048, pGSQS=0.514). A possible exception is the Difficulty Identifying Feelings alexithymia dimension, reflecting complaints about the labeling of interoceptive experiences, which was associated with lower subjective sleep quality even after covariate control. This pattern of findings suggests that alexithymia is characterized only by alterations of subjective sleep quality, and even these reflect a non-specific increase in negative affect which influences self-reports of sleep quality, rather than a specific reduction in perceived sleep quality itself.

neuroscience↗

bioRxiv2020

Gain-of-function mutation in Gli3 causes ventricular septal defects

Ventricular septal defects (VSDs) are developmental disorders, characterised by a gap in the septum between the right and the left ventricle, that lead to life-threatening heart defects. At present, the only curative treatment of VSDs is surgical closure. Since these surgeries comprise several severe risks, the development of alternative therapies against VSDs is urgently needed. To develop such therapies, the current knowledge of the molecular factors and mechanisms underlying VSDs has to be increased. Based on our previous data, we analysed the relevance of the HH signalling pathway mediator GLI3 in ventricular septum (VS) formation. GLI3 functions as both a transcriptional activator (GLI3-A) and repressor (GLI3-R). By analysing two different mouse Gli3 mutants, we revealed that the lack of GLI3-A with simultaneous presence of GLI3-R impairs cilia-mediated PDGFR signalling causing reduced cell proliferation and in consequence the development of VSDs. Moreover, we showed that the rescue of PDGFR signalling restores cell proliferation. Since VSDs are also appear in humans with comparable gain-of-function mutations in GLI3, our findings propose activators of PDGFR signalling as potential agents against the development of VSDs. SUMMARYThe article reports how a gain-of-function mutation of Gli3 causes ventricular septal defects and paves the way for therapies tackling these congenital heart defects.

developmental biology↗