A new role of the oxytocin system in human skin stress responses and implications for atopic dermatitis

Deing, Verena; Roggenkamp, Dennis; Kühnl, Jochen; Gruschka, Alisa; Stäb, Franz; Wenck, Horst; Neufang, Gitta

doi:10.1016/j.bbi.2013.01.034

Cited by 1 publication

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“…It is believed this is how the corneal opacities develop in Aldh1a1/Aldh3a1 knockout mice (Lassen et al, 2007). It was also noted previously that knockdown of OXTR in keratinocytes and fibroblasts caused increased levels of ROS and decreased levels of glutathione, an important antioxidant (Deing et al, 2013). Therefore, loss of OXTR may also contribute to corneal opacities by further reducing the cornea's protection against stressors such as ultraviolet radiation.…”

Section: Discussionmentioning

confidence: 62%

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RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis

McGeoghan,

Camera,

Maiellaro

et al. 2023

Front. Mol. Biosci.

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Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol sulfate retention and the mechanism of extracutaneous phenotypes such as corneal opacities and attention deficit hyperactivity disorder are poorly understood. To understand the pathomechanisms of RXLI, the transcriptome of differentiated primary keratinocytes with STS knockdown was sequenced. The results were validated in a stable knockdown model of STS, to confirm STS specificity, and in RXLI skin. The results show that there was significantly reduced expression of genes related to epidermal differentiation and lipid metabolism, including ceramide and sphingolipid synthesis. In addition, there was significant downregulation of aldehyde dehydrogenase family members and the oxytocin receptor which have been linked to corneal transparency and behavioural disorders respectively, both of which are extracutaneous phenotypes of RXLI. These data provide a greater understanding of the causative mechanisms of RXLI’s cutaneous phenotype, and show that the keratinocyte transcriptome and lipidomics can give novel insights into the phenotype of patients with RXLI.

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Section: Discussionmentioning

confidence: 62%

“…Behaviours on the autistic spectrum and ADHD are more common in RXLI patients (25% and 40%, respectively) than the general population (Kent et al, 2008;Deing et al, 2013). It has been shown that loss of STS due to point mutations alone can result in RXLI patients developing ADHD.…”

Section: Discussionmentioning

confidence: 99%