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Int. J. Mol. Sci. 2017, 18(5), 1072; doi:10.3390/ijms18051072

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

1
Women’s and Children’s Health Department, University of Padova, Via Giustiniani 3, 35128 Padova, Italy
2
Pediatric Research Institute—Città della Speranza, Corso Stati Uniti 4, 35127 Padova, Italy
3
CRIBI Biotechnology Center, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy
4
Brains for Brain Foundation, Via Giustiniani 3, 35128 Padova, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Ritva Tikkanen
Received: 14 March 2017 / Revised: 5 May 2017 / Accepted: 8 May 2017 / Published: 17 May 2017
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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 common, altered pathways between neurodegenerative disorders affecting elderly and those associated with pediatric diseases of genetic origin, perhaps pointing out a general common course for neurodegeneration, independent from the primary triggering cause. View Full-Text
Keywords: RNA-seq; Hunter syndrome; lysosomal storage disorders; neurodegenerative diseases; axon guidance; calcium homeostasis; synapse; circadian rhythm; Wnt signaling; neuroinflammation RNA-seq; Hunter syndrome; lysosomal storage disorders; neurodegenerative diseases; axon guidance; calcium homeostasis; synapse; circadian rhythm; Wnt signaling; neuroinflammation
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Salvalaio, M.; D’Avanzo, F.; Rigon, L.; Zanetti, A.; D’Angelo, M.; Valle, G.; Scarpa, M.; Tomanin, R. Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model. Int. J. Mol. Sci. 2017, 18, 1072.

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