Mucopolysaccharidosis VI in a Miniature Pischer

Neer, T.M.; Dial, Sharon M.; Pechman, R. D.; Wang, P.; Oliver, Jean; Giger, Urs

doi:10.1111/j.1939-1676.1995.tb03306.x

Cited by 31 publications

(21 citation statements)

References 10 publications

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“…The dwarfism, generalised skeletal deformities from puppyhood and corneal opacities seen in the dog described here are most characteristic of MPS VI (Neer et al 1995). The mild regenerative anaemia and reactive haemopoiesis were not thought to be related to this primary MPS disease and remained unexplained.…”

Section: Discussionmentioning

confidence: 65%

“…MPS I, MPS VI and MPS VII were considered the more likely diseases. Each of the above MPS disorders has been described in dogs; MPS I in a Plott hound (Shull et al 1984), Plott hound × Beagle cross (Dickson et al 2008), a Rottweiler and a Boston terrier (Haskins et al 2006); MPS VI in Miniature Pinschers (Neer et al 1995), Miniature Schnauzer, Cheasapeake Bay Retrievers and Welsh Corgis (Haskins and Giger 2008), and MPSV II in mixed breed dogs (Haskins et al 1984) and German Shepherd dogs (Dombrowski et al 2004). MPS VI has also been well characterised in Siamese and domestic shorthair cats (reviewed in Sewell et al 2007; Haskins and Giger 2008).…”

Section: Discussionmentioning

confidence: 99%

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Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

Jolly

Marshall

et al. 2012

New Zealand Veterinary Journal

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AIM To investigate and characterise an inborn error of metabolism in a dog with skeletal and ocular abnormalities. METHODS A 2.5-year-old small male Miniature Poodle-like dog was presented with gross joint laxity and bilateral corneal opacities. Clinical examination was augmented by routine haematology, serum chemistry, radiographs, pathology, enzymology and molecular genetic studies. Euthanasia was requested when the dog was 3 years of age because of progressively decreasing quality of life. RESULTS Radiology revealed generalised epiphyseal dysplasia, malformed vertebral bodies, luxation/subluxation of appendicular and lumbosacral joints with hypoplasia of the odontoid process and hyoid apparatus. These clinical and radiographic findings, together with a positive urinary Berry spot test for mucopolysaccharides, and metachromatic granules in leucocytes, were indicative of a mucopolysaccharidosis (MPS), a lysosomal storage disease. Histological lesions included vacuolation of stromal cells of the cornea, fibroblasts, chondrocytes, macrophages and renal cells. The brain was essentially normal except for moderate secondary Wallerian-type degeneration in motor and sensory tracts of the hind brain. Dermatan sulphateuria was present and enzymology revealed negligible activity of N-acetylgalactosamine-4-sulphatase, also known as arylsulphatase B, in cultured fibroblasts and liver tissue. A novel homozygous 22 base pair (bp) deletion in exon 1 of this enzyme’s gene was identified (c.103_124del), which caused a frame-shift and subsequent premature stop codon. The “Wisdom pure breed-mixed breed” test reported the dog as a cross between a Miniature and Toy Poodle. CONCLUSIONS The clinicopathological features are similar to those of MPS type VI as previously described in dogs, cats and other species, and this clinical diagnosis was confirmed by enzymology and molecular genetic studies. This is an autosomal recessively inherited lysosomal storage disease. CLINICAL RELEVANCE The prevalence of MPS VI in Miniature or Toy Poodles in New Zealand and elsewhere is currently unknown. Due to the congenital nature of the disorder, malformed pups may be subject to euthanasia without investigation and the potential genetic problem in the breed may not be fully recognised. The establishment of a molecular genetic test now permits screening for this mutation as a basis to an informed breeding policy.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

Jolly

Marshall

et al. 2012

New Zealand Veterinary Journal

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“…Transduction of NIH 3T3 cells with media from producer line AMFG-1 resulted in high-level ASB expression (not shown), and this producer line was therefore used as the source of recombinant virus for the remainder of the studies. 4 incorporation. These results were not due to increased release of other GAG hydrolyzing enzymes into the media, but may relate to the fact that there was a partial reduction of the intracellular activity of arylsulfatase A, another lysosomal sulfatase, in cells overexpressing ASB (not shown).…”

Section: Retroviral Transduction Of Mps VI Skin Fibroblastsmentioning

confidence: 99%

“…In man, MPS VI is characterized by short stature, dysotosis multiplex, coarse facial features, cardiac valve anomalies, thickening of the tracheal wall and corneal clouding (1). Notably, MPS VI has been described in cats, rats and dogs, and breeding colonies of the cats and rats have been established (2)(3)(4). Several approaches have been considered and/or evaluated for the treatment of MPS VI, including bone marrow transplantation (BMT), enzyme replacement and hematopoietic stem cell-mediated gene therapy.…”

Section: Introductionmentioning

confidence: 99%

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Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.

et al. 1996

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Gene therapy for lysosomal storage diseases: the lessons and promise of animal models

Ellinwood

Vite

Haskins

2004

The Journal of Gene Medicine

116

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There are more than 40 different forms of inherited lysosomal storage diseases (LSDs) known to occur in humans and the aggregate incidence has been estimated to approach 1 in 7000 live births. Most LSDs are associated with high morbidity and mortality and represent a significant burden on patients, their families, and health care providers. Except for symptomatic therapies, many LSDs remain untreatable, and gene therapy is among the only viable treatment options potentially available. Therapies for some LSDs do exist, or are under evaluation, including heterologous bone marrow transplantation (BMT), enzyme replacement therapy (ERT), and substrate reduction therapy (SRT), but these treatment options are associated with significant concerns, including high morbidity and mortality (BMT), limited positive outcomes (BMT), incomplete response to therapy (BMT, ERT, and SRT), life-long therapy (ERT, SRT), and cost (BMT, ERT, SRT). Gene therapy represents a potential alternative therapy, albeit a therapy with its own attendant concerns. Animal models of LSDs play a critical role in evaluating the efficacy and safety of therapy for many of these conditions. Naturally occurring animal homologs of LSDs have been described in the mouse, rat, dog, cat, guinea pig, emu, quail, goat, cattle, sheep, and pig. In this review we discuss those animal models that have been used in gene therapy experiments and those with promise for future evaluations.

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Mucopolysaccharidosis VI in a Miniature Pischer

Cited by 31 publications

References 10 publications

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene

Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells. Prospects for gene therapy.

Gene therapy for lysosomal storage diseases: the lessons and promise of animal models

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