Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019209 (
hepatomegaly
)
5,798
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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 F
1
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
+/-
pigs.
NAGLU
+/-
pigs grew at a significantly (
P
<0.05) slower rate than control animals (
NAGLU
+/+
). Death, mostly sudden death, occurred at all ages in
NAGLU
+/-
pigs, most of which died within two years. Necropsy findings included pleural adhesions, lung shrinkage and abnormalities in the pericardium and mild
hepatomegaly
in
NAGLU
+/-
pigs. Notable pathological changes were observed in the sections of brain, liver, spleen and kidney from
NAGLU
+/-
pigs. Brain atrophy, ventriculomegaly, cerebellar atrophy and abnormalities in the intracerebral capsule, parietal lobes and the thalamus were also evident in
NAGLU
+/-
pigs. Together,
NAGLU
+/-
pigs show typical symptoms of human MPS IIIB patients and thus represent a novel large animal model for the disease.This article has an associated First Person interview with the first author of the paper.
...
PMID:A model of mucopolysaccharidosis type IIIB in pigs. 3025 28
