Preclinical models of Wilson's disease, why dogs are catchy alternatives
| Autor: | Hedwig S. Kruitwagen, Louis C. Penning |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Atp7b gene Physiology General Medicine Disease Review Article Biology Body size medicine.disease Wilson's disease 03 medical and health sciences 030104 developmental biology 0302 clinical medicine COMMD1 Gene medicine 030217 neurology & neurosurgery Specific population Modifier Genes |
| Zdroj: | Annals of translational medicine. 7(Suppl 2) |
| ISSN: | 2305-5839 |
| Popis: | Copper toxicosis is frequently encountered in various dog breeds. A number of differences and similarities occur between Wilson disease and copper toxicosis in Bedlington terriers, caused by a mutation in the COMMD1 gene, and copper toxicosis in Labrador retrievers, caused by mutations in both ATP7A and ATP7B gene. First the specific population structure of dog breeds is explained with reference to its applicability for genetic investigations. The relatively large body size (variable from less than 1 kg to over 50 kg) and life-span (over 10 years) of dogs facilitates preclinical studies on safety on long-term effects of novel procedures. Then copper toxicosis in the two dog breeds is described in detail with an emphasis on the functions of the causative proteins. Some of the advantages of this species for preclinical studies are described with an example of liver stem cell transplantations in COMMD1 deficient dogs. Since the genetic background of copper toxicosis in other dogs’ breeds has not yet been elucidated, it is conceivable that novel copper-related gene products or modifier genes will be discovered. About a century after the Novel prize was awarded to the research on dogs (Pavlov), dogs are in spotlight again as important preclinical model animals. |
| Databáze: | OpenAIRE |
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