Next Article in Journal
hCG Triggering in ART: An Evolutionary Concept
Next Article in Special Issue
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
Previous Article in Journal
Edible Plants and Their Influence on the Gut Microbiome and Acne
Previous Article in Special Issue
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses
 
Search for Articles:
Title / Keyword
Author / Affiliation
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
Journals
IJMS
Volume 18
Issue 5
10.3390/ijms18051072
ijms-logo
Submit to this Journal Review for this Journal Edit a Special Issue
► Article Menu

Article Menu

share announcement question_answer thumb_up
...
textsms
...
Article

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

by
Marika Salvalaio
1,2,
Francesca D’Avanzo
1,2,*,
Laura Rigon
1,2,
Alessandra Zanetti
1,2,
Michela D’Angelo
3,
Giorgio Valle
3,
Maurizio Scarpa
1,2,4 and
Rosella Tomanin
1,2
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
Int. J. Mol. Sci. 2017, 18(5), 1072; https://doi.org/10.3390/ijms18051072
Received: 14 March 2017 / Revised: 5 May 2017 / Accepted: 8 May 2017 / Published: 17 May 2017
(This article belongs to the Special Issue Lysosomal Storage Disorders: Novel Concepts, Therapeutic Aspects and Beyond)
View Full-Text Download PDF
Browse Figures

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
►▼ Show Figures

Graphical abstract

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

Supplementary Material

SciFeed

Share and Cite

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. https://doi.org/10.3390/ijms18051072

AMA 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. International Journal of Molecular Sciences. 2017; 18(5):1072. https://doi.org/10.3390/ijms18051072

Chicago/Turabian Style

Salvalaio, Marika, Francesca D’Avanzo, Laura Rigon, Alessandra Zanetti, Michela D’Angelo, Giorgio Valle, Maurizio Scarpa, and Rosella Tomanin. 2017. "Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model" International Journal of Molecular Sciences 18, no. 5: 1072. https://doi.org/10.3390/ijms18051072

Find Other Styles
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Article Access Map by Country/Region

1
Back to TopTop