Canine Models for Copper Homeostasis Disorders
| Autor: | Wu, Xiaoyan, Leegwater, Peter A J, Fieten, Hille, Onderzoek, LS Interne geneeskunde, dCSCA RMSC-1, dCSCA AVR |
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| Přispěvatelé: | Onderzoek, LS Interne geneeskunde, dCSCA RMSC-1, dCSCA AVR |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Cirrhosis Genetic enhancement Disease Review Bioinformatics lcsh:Chemistry Labrador retriever Hepatolenticular Degeneration Homeostasis genetics Bedlington terrier lcsh:QH301-705.5 Spectroscopy Metal Metabolism Inborn Errors Genetics Chromosome Mapping General Medicine Menkes disease Computer Science Applications nutrition ATP7A chemistry.chemical_element Biology Catalysis Inorganic Chemistry 03 medical and health sciences Dogs ATP7B medicine Animals Humans Physical and Theoretical Chemistry Molecular Biology Gene Genetic Association Studies Wilson disease Hepatitis Organic Chemistry Organ Transplantation COMMD1 medicine.disease Copper Chelation Therapy Disease Models Animal 030104 developmental biology chemistry lcsh:Biology (General) lcsh:QD1-999 copper toxicosis Diet Therapy |
| Zdroj: | International Journal of Molecular Sciences, 17(2). MDPI AG International Journal of Molecular Sciences, Vol 17, Iss 2, p 196 (2016) International Journal of Molecular Sciences |
| ISSN: | 1661-6596 |
| Popis: | Copper is an essential trace nutrient metal involved in a multitude of cellular processes. Hereditary defects in copper metabolism result in disorders with a severe clinical course such as Wilson disease and Menkes disease. In Wilson disease, copper accumulation leads to liver cirrhosis and neurological impairments. A lack in genotype-phenotype correlation in Wilson disease points toward the influence of environmental factors or modifying genes. In a number of Non-Wilsonian forms of copper metabolism, the underlying genetic defects remain elusive. Several pure bred dog populations are affected with copper-associated hepatitis showing similarities to human copper metabolism disorders. Gene-mapping studies in these populations offer the opportunity to discover new genes involved in copper metabolism. Furthermore, due to the relatively large body size and long life-span of dogs they are excellent models for development of new treatment strategies. One example is the recent use of canine organoids for disease modeling and gene therapy of copper storage disease. This review addresses the opportunities offered by canine genetics for discovery of genes involved in copper metabolism disorders. Further, possibilities for the use of dogs in development of new treatment modalities for copper storage disorders, including gene repair in patient-derived hepatic organoids, are highlighted. |
| Databáze: | OpenAIRE |
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