Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model

International Journal of Molecular Sciences
Marika SalvalaioRosella Tomanin

Abstract

Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders, mainly affecting children, sharing the inability to degrade specific endolysosomal substrates. This results in failure of cellular functions in many organs, including brain that in most patients may go through progressive neurodegeneration. In this study, we analyzed the brain of the mouse model for Hunter syndrome, a LSD mostly presenting with neurological involvement. Whole transcriptome analysis of the cerebral cortex and midbrain/diencephalon/hippocampus areas was performed through RNA-seq. Genes known to be involved in several neurological functions showed a significant differential expression in the animal model for the disease compared to wild type. Among the pathways altered in both areas, axon guidance, calcium homeostasis, synapse and neuroactive ligand-receptor interaction, circadian rhythm, neuroinflammation and Wnt signaling were the most significant. Application of RNA sequencing to dissect pathogenic alterations of complex syndromes allows to photograph perturbations, both determining and determined by these disorders, which could simultaneously occur in several metabolic and biochemical pathways. Results also emphasize the co...Continue Reading

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Citations

Feb 20, 2020·International Journal of Molecular Sciences·Francesca D'AvanzoRosella Tomanin
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Apr 27, 2019·International Journal of Molecular Sciences·Laura RigonRosella Tomanin
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Aug 8, 2021·International Journal of Molecular Sciences·Christiane S HampeR Scott McIvor
Nov 20, 2021·Metabolic Brain Disease·Thiago CorrêaCíntia B Santos-Rebouças

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Datasets Mentioned

BETA
GSE95224

Methods Mentioned

BETA
GTPase
RNA-seq
GTPases
PCR

Software Mentioned

KEGG Orthology Based Annotation System ( KOBAS )
DAVID Bioinformatics Resources
MWT
PASS
KOBAS
Functional Annotation Tool
DAVID
R package DEGseq

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