Press Release

MUTATION CAUSING STORAGE DISEASE IN MINATURE PINSCHERS IDENTIFIED

AKC Canine Health Foundation
Raleigh, NC, August 19, 2003 - The University of Pennsylvania Section of
Medical Genetics has been involved in the discovery of hereditary
diseases of companion animals for several decades and has developed and established diagnostic laboratory tests to accurately detect diseased
animals as well as carriers. A particular area of interest and
expertise at Penn is the study of lysosomal storage diseases, including
mucopolysaccharidosis type VI (MPS VI). With the support from the AKC
Canine Health Foundation and National Institutes of Health, the disease
causing mutation for MPS VI in Miniature Pinschers has recently been
discovered and a carrier test has been developed.

In mucopolysaccharidosis, certain large sugars of the body are
not properly broken down. The ensuing cellular accumulation results in
skeletal deformities, including defects in the sternum, vertebrae and
particularly the hip joints. To varying degrees they may also
experience corneal cloudiness and facial dysmorphia. MPS VI has been
seen in humans, cats and, more recently, dogs.

Dr. Polly Foureman, of Dr. Urs Giger's research group, discovered a
disease-causing mutation in the arylsulfatase gene in Miniature
Pinschers, therefore enabling the development of an accurate DNA test,
allowing the identification of MPS affected, carrier, and normal
animals. Affected Miniature Pinschers have not only been found in
various states in the US, but also abroad, making this appear to be more
wide spread and under-diagnosed than previously thought. The DNA test
requires an EDTA blood sample or cheek swabs and is being offered
through the Josephine Deubler Genetic Disease Testing Laboratory at the
University of Pennsylvania (www.vet.upenn.edu/penngen).

The clinicians and researchers at the University of
Pennsylvania, with the support of the AKC Health Foundation, are now
interested in examining if the common occurrence of Legge-Calves-Perthes (LCP) disease in Miniature Pinschers is related to MPS VI. LCP is a
devastating hip disease; there is necrosis of the femur head due to an
unknown cause. Although LCP is different than hip dysplasia and MPS VI,
similar bone changes are observed in Miniature Pinschers with MPS VI and
therefore MPS and LCP disease may be related in this breed. Penn's
researchers want to determine, through a study, if there is an
association between MPS and LCP disease in this and other breeds with
LCP disease.

We are asking breeders, owners, and veterinarians who suspect either
condition in a Miniature Pinscher to contact us and submit samples and
information free of charge for a limited time. Please be assured that
all results about individual animals will only be reported to the owner
and kept strictly confidentially. To receive further information
contact Dr. Giger at penngen@mail.vet.upenn.edu or by fax to 215 573
2162.