Public release date: 6-Aug-2012 [ | E-mail | Share ]

Contact: Professor Hannes Lohi hannes.lohi@helsinki.fi 358-919-125-085 University of Helsinki

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkhlsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene. Malfunction of the GUSB gene has previously been linked to a severe skeletal disorder in humans, called type VII mucopolysaccharidosis (MPS VII).

The gene discovery is yet another example of a shared disease heritage between dogs and humans. Based on this study a gene test has been developed for the breed to eliminate the disease.

The study has been published in PLoS ONE journal on July 5, 2012.

Bone abnormalities are common in a group of lysosomal storage diseases, also known as mucopolysaccharidosis (MPS). Lysosomes are microscopic intracellular organelles that consist of more than 40 different degradative enzymes. They function as a cellular "cleaning system" and are responsible for example digesting foreign bacteria in the cells and destroying damaged cellular components. Functional defects in the lysosomal enzymes lead to the accumulation of a particular structural component, glycoaminoglycan, in the lysosomes, and this in turn leads to the development of skeletal disorders known as mucopolysaccharidoses.

Eleven different MPS diseases have already been found in humans. Typical features of the disease include dwarfism, skeletal abnormalities, coarse facial features, cloudy corneas and overgrowth of the internal organs.

Dogs are known for extreme structural variation, and some of these features have been intentionally bred. For example, the length of the limbs varies greatly between breeds. Besides breed-specific particularities, dogs also have serious inherited skeletal disorders, the genetic backgrounds of which are now being discovered.

The diagnosis of the skeletal disorder in Brazilian Terriers confirmed by gene discovery

A few years ago our research group was introduced to Brazilian Terrier puppies that had severe congenital skeletal abnormalities in the limbs, loose joints, facial deformities and dwarfism. The affected puppies could not move and had to be put down before the second month of life.

See the article here:
The genetic cause of a severe skeletal disease in Brazilian Terrier puppies revealed

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