Stefan Blunder's research while affiliated with University of Innsbruck and other places

... It is proposed that mitochondria play an important role in the pathogenesis of AD. Abnormal levels of mitochondrial metabolism and mitochondrial respiration in pro-oxidative situations have been gradually identified as a potential distinguishing characteristic of inflammatory illnesses like AD (5,14,15). Topical application of MitoQ, a mitochondrial targeting antioxidant, has been shown to effectively ameliorate AD-like eczema in mice through antiinflammatory and antioxidant effects (14). It is necessary to uncover novel critical mitochondria-related genes, in light of aberrant mitochondria activity in the course of AD, to better understand the potential mechanism of AD and provide new ideas for molecular diagnosis and therapy for these patients. ...

... Filaggrin protein plays an important role in maintaining the skin surface barrier, and its lack of function will induce AD [32,33]. Our experimental results showed that MMI increased the expression of filaggrin protein in TNF-α/IFN-γ-stimulated HaCaT cells, which was consistent with the effect of Dexa ( Figure 1B), suggesting that MMI may play the same role as Dexa in alleviating AD. ...

... ACADS and ACOX1 expression showed the same trend without reaching statistical significance. These results support the hypothesis of a link between the increased mitochondrial function observed in AD epidermis [37,41] and the increased utilization of FAs as energetic substrates under Th2 signaling. Changes in concentrations of cholesterol sulfate and ceramides, although apparent, did not reach significance (Table S12). ...

... The ELOVL3 and ELOVL4 enzymes are involved in the elongation of saturated FA 16:0 to FA 22:0-CoA and ultra-long-chain FAs (C26-36), respectively [64]. The observation of decreased expression of ELOVLs in 3D-HEEs treated with IL-4 and IL-13 is consistent with findings of their reduced expression in human SC from AD lesion areas [65,66]. Recent studies have identified significant metabolic changes in the SC and plasma of AD patients following treatment with dupilumab, a monoclonal antibody targeting the receptors for IL-4 and IL-13 [67,68]. ...

... Cystatin E/M regulates the desquamation and cornification process by inhibiting cathepsin V and L activity with high efficiency. The dysfunction of CST6 results in dry skin and keratosis caused by unregulated proteolytic events induced by cathepsin V, L, and legumain in the epidermis [57,58]. Knockdown of CST6 in vitro causes deficient development of the multilayer epidermis [59]. ...

... Nuclear hormone receptors (NRs) play a crucial role in gene regulation and are targeted by various treatments for psoriasis, including glucocorticoids, retinoids, and vitamin D3 analogues [60,61] . These ligands bind to specific receptors like the glucocorticoid receptor (GR), retinoic acid receptor (RXR), and vitamin D receptor (VDR), which have domains for DNA and hormone binding, influencing gene expression [62][63][64] . ...

... It was found to be up-regulated in psoriasis tissues, which is consistent with RNA sequencing results [42]. In psoriasis, the inflammatory cytokines IL-1β and TNF-α released by immune cells in acute epidermal barrier impairment increased the PPARD levels [43]. ...

... Finally, 12 studies were included [2,[28][29][30][31][32][33][34][35][36][37][38]. Eight of these were case series [2,[28][29][30][33][34][35]38] and four were case reports [31,32,36,37]. ...

... Although the c.1798C > T variant has only been reported in one case study, c.1463G > A is a confirmed pathogenic variant that has been reported multiple times. [6][7][8][9][10][11] The above variants may be causative of CB in this case. ...

... 9 These techniques can then be combined with inflammatory mediators such as Th1 or Th2 cytokines, gene editing methods like CRISPR/Cas9, or the use of patient derived cells to generate disease models for common dermatoses such as psoriasis 10,11 or atopic dermatitis. 12,13 All these models rely on the use of normal human epidermal keratinocytes (NHK) that are isolated from donor skin obtained from plastic surgery or circumcisions. However, these cells are limited by availability and display donor-specific variations in terms of (epi) genetic background, age or body site that hamper the understanding of general principles. ...