Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches
Marcó, Sara (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Muñoz Forero, Sergio Antonio (Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas)
Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Jimenez, Veronica (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)

Date:	2025
Abstract:	Mice have been a cornerstone of biomedical research for decades for studying a wide range of biological processes, disease mechanisms, and the assessment of therapies. Moreover, mice present several practical advantages such as small size, low cost and ease of genetic manipulation. While mice offer numerous benefits, for certain disease areas, rat models provide a closer representation of human disease progression, offering better insights for translational research and therapeutic development. This closer resemblance is particularly important for research focusing on diseases involving the cardiovascular and musculoskeletal system. In rats, the pathophysiology of these diseases mirrors the clinical alterations observed in humans. This review focuses on the key phenotypic differences between mouse and rat models of lysosomal storage disorders that specifically manifest with cardiac, skeletal muscle, and bone and joint involvement (Pompe and Danon diseases, and Maroteaux-Lamy and Morquio A syndromes). Furthermore, we discuss the therapeutic potential of various adeno-associated viral vector-mediated gene therapies that have been evaluated in these rat models, highlighting their contributions to advancing treatment options for these debilitating conditions.
Grants:	Ministerio de Economía y Competitividad SAF2017-86266R Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-01012 Ministerio de Sanidad y Consumo CB07/08/0037
Note:	Altres ajuts: acords transformatius de la UAB
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	AAV vectors ; Danon disease ; Lysosomal storage disorders ; Maroteaux-Lamy syndrome ; Morquio A syndrome ; Pompe disease ; Rat model
Published in:	Mammalian genome, Mar 2025, ISSN 1432-1777

DOI: 10.1007/s00335-025-10121-3
PMID: 40100425

12 p, 1.1 MB

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