title: Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI).
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.
authors.affiliation: 1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy [2] Institute of Genetics and Biophysics, CNR, Naples, Italy [3].
authors.forename: Paola
authors.initials: P
authors.lastname: Saccone
authors.affiliation: 1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy [2] Medical Genetics, Dept. of Pediatrics, "Federico II" University, Naples, Italy [3].
authors.forename: Gabriella
authors.initials: G
authors.lastname: Cotugno
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Russo
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Mastrogiacomo
authors.affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessitore
authors.affiliation: 1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy [2] Medical Genetics, Dept. of Pediatrics, "Federico II" University, Naples, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Auricchio
authors.affiliation: 1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy [2] Institute of Genetics and Biophysics, CNR, Naples, Italy.
authors.forename: Elvira
authors.initials: E
authors.lastname: De Leonibus
mesh_terms: D000818:Animals; D001522:Behavior, Animal; D004195:Disease Models, Animal; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000378:metabolism / Q000503:physiopathology* / Q000523:psychology; D051381:Rats
chemical_list: D006025:Glycosaminoglycans