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Cells
Special Issues
Updates on Peroxisomal Disorders: Development of Targeted Therapies
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Updates on Peroxisomal Disorders: Development of Targeted Therapies

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".

Deadline for manuscript submissions: closed (1 July 2024) | Viewed by 1778

Special Issue Editors

Dr. Joseph G. Hacia

E-Mail Website
Guest Editor
Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
Interests: peroxisomal disorders; gene therapy; gene editing; small-molecule screening; stem cell biology
Special Issues, Collections and Topics in MDPI journals
Dr. Femke Klouwer

E-Mail Website
Guest Editor
1. Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
2. Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
Interests: inherited neurometabolic disorders; peroxisome biogenesis disorders; single peroxisomal enzyme deficiencies; targeted therapies
Dr. Nancy Braverman

E-Mail Website1 Website2
Guest Editor
Research Institute of The McGill University Health Centre, Montreal, QC, Canada
Interests: genetic disorders; peroxisome diseases; mouse models; drug therapies; lipid metabolism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue aims to provide an innovative forum through which to discuss emerging therapies of possible relevance to the treatment of inherited peroxisomal disorders. Peroxisomes are metabolic organelles that act as a central hub of cell signaling pathways and play essential roles in the functions and development of mammalian organ systems. Currently, there is an expanding understanding of genetic disorders caused by impaired peroxisome assembly and/or downstream functions. These include peroxisome biogenesis disorders (PBDs) such as Zellweger spectrum disorder (ZSD) and rhizomelic chondrodysplasia punctata (RCDP), which affect numerous peroxisome functions and induce peroxisomal single-protein deficiencies (e.g., adrenoleukodystrophy (ALD), adult Refsum disease (ARD), ACOX1 deficiency, D-bifunctional protein deficiency) that impair specific peroxisomal metabolic activities. In addition, the role of gain-of-function pathogenic variants in peroxisomal disorders is becoming increasingly clear.

Here, our overall goal is to accelerate the process of developing roadmaps for the therapeutic development for peroxisomal disorders by engaging in a critical evaluation of therapeutic modalities including gene-, small-molecule-, oligonucleotide-, and cell-based therapies. We will place a emphasis on discussions of the research infrastructure required for the development and eventually testing of these therapies in the clinical setting. This includes cell-based and animal models of disease, clinical biomarkers, therapeutic windows, and clinical endpoints. Moreover, we will highlight fundamental gaps in the scientific knowledge base that need to be bridged to develop more effective rational therapeutic interventions for peroxisomal disorders.

Dr. Joseph G. Hacia
Dr. Femke C. C. Klouwer
Dr. Nancy Braverman
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • peroxisomes
  • peroxisomal disorders
  • gene therapy
  • small-molecule therapies
  • stem cell transplantation
  • animal models

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Related Special Issue

Published Papers (1 paper)

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Research

19 pages, 10825 KiB  
Article
Role of ACSBG1 in Brain Lipid Metabolism and X-Linked Adrenoleukodystrophy Pathogenesis: Insights from a Knockout Mouse Model
by Xiaoli Ye, Yuanyuan Li, Domingo González-Lamuño, Zhengtong Pei, Ann B. Moser, Kirby D. Smith and Paul A. Watkins
Cells 2024, 13(20), 1687; https://doi.org/10.3390/cells13201687 - 12 Oct 2024
Cited by 2 | Viewed by 1330
Abstract
“Bubblegum” acyl-CoA synthetase (ACSBG1) is a pivotal player in lipid metabolism during mouse brain development, facilitating the activation of long-chain fatty acids (LCFA) and their incorporation into lipid species that are crucial for brain function. ACSBG1 converts LCFA into acyl-CoA derivatives, supporting vital [...] Read more.
“Bubblegum” acyl-CoA synthetase (ACSBG1) is a pivotal player in lipid metabolism during mouse brain development, facilitating the activation of long-chain fatty acids (LCFA) and their incorporation into lipid species that are crucial for brain function. ACSBG1 converts LCFA into acyl-CoA derivatives, supporting vital metabolic processes. Fruit fly mutants lacking ACSBG1 exhibited neurodegeneration and had elevated levels of very long-chain fatty acids (VLCFA), characteristics of human X-linked adrenoleukodystrophy (XALD). To explore ACSBG1’s function and potential as a therapeutic target in XALD, we created an ACSBG1 knockout (Acsbg1−/−) mouse and examined the effects on brain FA metabolism during development. Phenotypically, Acsbg1−/− mice resembled wild type (w.t.) mice. ACSBG1 expression was found mainly in tissue affected pathologically in XALD, namely the brain, adrenal gland and testis. ACSBG1 depletion did not significantly reduce the total ACS enzyme activity in these tissue types. In adult mouse brain, ACSBG1 expression was highest in the cerebellum; the low levels detected during the first week of life dramatically increased thereafter. Unexpectedly, lower, rather than higher, saturated VLCFA levels were found in cerebella from Acsbg1−/− vs. w.t. mice, especially after one week of age. Developmental changes in monounsaturated ω9 FA and polyunsaturated ω3 FA levels also differed between w.t. and Acsbg1−/− mice. ACSBG1 deficiency impacted the developmental expression of several cerebellar FA metabolism enzymes, including those required for the synthesis of ω3 polyunsaturated FA, precursors of bioactive signaling molecules like eicosanoids and docosanoids. These changes in membrane lipid FA composition likely affect membrane fluidity and may thus influence the body’s response to inflammation. We conclude that, despite compelling circumstantial evidence, it is unlikely that ACSBG1 directly contributes to the pathology of XALD, decreasing its potential as a therapeutic target. Instead, the effects of ACSBG1 knockout on processes regulated by eicosanoids and/or docosanoids should be further investigated. Full article
(This article belongs to the Special Issue Updates on Peroxisomal Disorders: Development of Targeted Therapies)
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