A model of mucopolysaccharidosis type IIIB in pigs.

ABSTRACT: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder caused by loss-of-function mutations in the NAGLU gene. Pigs are an ideal large animal model for human diseases; however, a porcine model of MPS IIIB has not been reported. We have previously generated a heterozygous NAGLU-deficient (NAGLU ^+/-) Large White boar via a transgenic approach. Here we characterized phenotypes of the F₁ offspring of this founder to establish a pig model for MPS IIIB. qRT-PCR revealed that the NAGLU expression level was significantly decreased in a variety of tissues in NAGLU ^+/- pigs. ELISA assays showed obvious deficiency of NAGLU and higher (P<0.05) glycosaminoglycan levels in multiple tissues from NAGLU ^+/

SUBMITTER: Yang Q 

PROVIDER: S-EPMC6215415 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature