Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)

Paola Saccone, Gabriella Cotugno, Fabio Russo, Rosa Mastrogiacomo, Alessandra Tessitore, Alberto Auricchio, Elvira De Leonibus

Research output: Contribution to journalArticle

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Abstract

Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and morphological point of view. In this study, we report the sensory-motor characterization of MPS VI rats carrying homozygous null ARSB mutations. We show that adult MPS VI rats are specifically impaired in vertical activity and motor endurance. All together, these data are consistent with biochemical findings that show a major impairment in connective tissues, such as joints and bones. The behavioral abnormalities of MPS VI rats represent fundamental endpoints for studies aimed at testing the pre-clinical safety and efficacy of novel therapeutic approaches for MPS VI.

Original languageEnglish
Article number3644
JournalScientific Reports
Volume4
DOIs
Publication statusPublished - Jan 10 2014

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Mucopolysaccharidosis VI
Animal Models
Mucopolysaccharidoses
Dermatan Sulfate
Mutation
Connective Tissue
Motor Activity
Joints
Safety
Bone and Bones
Enzymes

ASJC Scopus subject areas

  • General

Cite this

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI). / Saccone, Paola; Cotugno, Gabriella; Russo, Fabio; Mastrogiacomo, Rosa; Tessitore, Alessandra; Auricchio, Alberto; De Leonibus, Elvira.

In: Scientific Reports, Vol. 4, 3644, 10.01.2014.

Research output: Contribution to journalArticle

Saccone, Paola ; Cotugno, Gabriella ; Russo, Fabio ; Mastrogiacomo, Rosa ; Tessitore, Alessandra ; Auricchio, Alberto ; De Leonibus, Elvira. / Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI). In: Scientific Reports. 2014 ; Vol. 4.
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