Non-Mammalian Models for Understanding Neurological Defects in RASopathies.

Autor:	Rodríguez-Martín M; Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.; Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain., Báez-Flores J; Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.; Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain., Ribes V; Institut Jacques Monod, Université Paris Cité, CNRS, F-75013 Paris, France., Isidoro-García M; Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.; Clinical Biochemistry Department, Hospital Universitario de Salamanca, 37007 Salamanca, Spain.; Clinical Rare Diseases Reference Unit DiERCyL, 37007 Castilla y León, Spain.; Department of Medicine, University of Salamanca, 37007 Salamanca, Spain., Lacal J; Laboratory of Functional Genetics of Rare Diseases, Department of Microbiology and Genetics, University of Salamanca, 37007 Salamanca, Spain.; Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain., Prieto-Matos P; Institute of Biomedical Research of Salamanca (IBSAL), 37007 Salamanca, Spain.; Clinical Rare Diseases Reference Unit DiERCyL, 37007 Castilla y León, Spain.; Department of Pediatrics, Hospital Universitario de Salamanca, 37007 Salamanca, Spain.; Department of Biomedical and Diagnostics Science, University of Salamanca, 37007 Salamanca, Spain.
Jazyk:	angličtina
Zdroj:	Biomedicines [Biomedicines] 2024 Apr 10; Vol. 12 (4). Date of Electronic Publication: 2024 Apr 10.
DOI:	10.3390/biomedicines12040841
Abstrakt:	RASopathies, a group of neurodevelopmental congenital disorders stemming from mutations in the RAS/MAPK pathway, present a unique opportunity to delve into the intricacies of complex neurological disorders. Afflicting approximately one in a thousand newborns, RASopathies manifest as abnormalities across multiple organ systems, with a pronounced impact on the central and peripheral nervous system. In the pursuit of understanding RASopathies' neurobiology and establishing phenotype-genotype relationships, in vivo non-mammalian models have emerged as indispensable tools. Species such as Danio rerio , Drosophila melanogaster , Caenorhabditis elegans , Xenopus species and Gallus gallus embryos have proven to be invaluable in shedding light on the intricate pathways implicated in RASopathies. Despite some inherent weaknesses, these genetic models offer distinct advantages over traditional rodent models, providing a holistic perspective on complex genetics, multi-organ involvement, and the interplay among various pathway components, offering insights into the pathophysiological aspects of mutations-driven symptoms. This review underscores the value of investigating the genetic basis of RASopathies for unraveling the underlying mechanisms contributing to broader neurological complexities. It also emphasizes the pivotal role of non-mammalian models in serving as a crucial preliminary step for the development of innovative therapeutic strategies. Competing Interests: The authors declare no conflict of interest.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu