Abstracts

Modulation of Redox and Inflammatory Pathways in Models of Dravet’s Syndrome

Abstract number : 1.42
Submission category : 1. Basic Mechanisms / 1D. Mechanisms of Therapeutic Interventions
Year : 2022
Submission ID : 2232882
Source : www.aesnet.org
Presentation date : 12/3/2022 12:00:00 PM
Published date : Nov 22, 2022, 05:28 AM

Authors :
Ariana Crary, N/A – Summer Research Training Program, University of Colorado Anschutz Medical Campus; Rajeswari Banerji, PhD – University of Colorado Anschutz Medical Campus; Scott Baraban, PhD – University of California San Francisco; Ruth Fulton, PRA – University of Colorado Anschutz Medical Campus; Anna Gabriela Figueroa, Pharm D Candidate – University of Colorado Anschutz Medical Campus; Kelly Knupp, MD – University of Colorado Anschutz Medical Campus; Manisha Patel, PhD – University of Colorado Anschutz Medical Campus

Rationale: Dravet syndrome (DS) is a catastrophic pediatric epilepsy in urgent need of novel therapies. We have previously shown that treatment with the drug PK11195, a translocator protein (TSPO) ligand, normalized altered glucose metabolism and inhibited seizures in a zebrafish model of DS (Banerji et al., Brain Comm 2021). Since TSPO has been used as a biomarker of neuroinflammation, we asked if decreasing inflammation per se could inhibit TSPO expression in a zebrafish model of DS (scn1Lab). We also asked if TSPO expression and the Nrf2 pathway were altered in lymphoblast cell lines (LCLs) from DS patients.

Methods: Scn1lab mutant zebrafish larvae were treated with either vehicle, PK11195 as a positive control, or dimercaprol (DMP), which has been shown to increase cellular glutathione and inhibit inflammation (McElroy et al., 2017). TSPO gene expression was assessed using RT-qPCR. LCLs from DS patients and age- and sex-matched control subjects were developed and obtained from Coriell Institute and cultured for ~11 passages prior to RT-qPCR analysis for expression of TSPO and Nrf-2 pathway genes.

Results: DMP and PK11195 significantly decreased TSPO expression in the scn1Lab mutant zebrafish (n=3) (DMP p=0.0241) (PK11195 p=0.0500). TSPO expression was not significantly altered in LCLs from DS vs controls; however, LCLs from DS patients showed a trend towards increased TSPO expression. Genes in the Nrf-2 pathway, specifically KEAP1A (p=0.0215), HO1 (p=0.3014), and NQO1 (p=0.0846), were altered in DS LCLs.

Conclusions: Our results suggest that DMP inhibited TSPO expression in the scn1Lab zebrafish model of DS. This finding warrants further investigation to verify the underlying mechanism. Moreover, the dysregulation of the Nrf-2 pathway in DS vs control LCLs suggests altered redox and repair processes in DS which need further investigation.

Funding: American Epilepsy Society Summer Internship Program (AC), Dravet Syndrome Foundation (MP and KK) and R01HD102071 (MP and SB)
Basic Mechanisms