Dog Care Blog | Carillon Cares |
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Copper Toxicosis in Bedlington Terriers At last Dr. Susan Haywood's paper defining Bedlington Terriers affected with copper Toxicosis that lack the COMMD1 mutation will be published in May, 2015. This will provide you with the Abstract of her paper as found on the SCIENCE DIRECT website. Dr. Haywood is continuing her study of copper toxicosis and is requesting that owners of affected 2,2 Bedlington Terriers send blood samples. You may contact her directly at Abstract Wilson's disease, caused by a mutation in the ATP-ase 7B gene, is the only genetically characterised human disease with inhibition of biliary copper excretion and toxic copper accumulation in liver and occasionally brain. A similar copper toxicosis occurs in Bedlington terriers (CT) with liver damage only. Although CT has been associated with a defect in the COMMD1 gene (COMMD1 del/del), Bedlington terriers with CT and lacking this mutation are also recognised (non-COMMD1 del/del). A study was designed to identify any other gene polymorphisms associated with copper toxicity in Bedlington terriers employing genome wide association studies (GWAS) followed by deep sequencing of the candidate region. Blood for DNA analysis and liver for confirmation of the diagnosis was obtained from 30 non-COMMD1 del/del Bedlington terriers comprising equal numbers of CT-affected dogs and controls. DNA was initially subjected to GWAS screening and then further sequencing to target the putative mutant gene. The study has identified a significant disease association with a region on chromosome 37 containing identified SNPs which are highly significantly associated with non-COMMD1 del/del Bedlington terrier CT. This region contains the ABCA12 gene which bears a close functional relationship to ATP-ase 7B responsible for Wilson's disease in man. Animal Health Trust The Animal Health Trust in Great Britain has launched an exciting study, "GIVE A DOG A GENOME". We are particularly interested as Bedlington Terriers are among the first breeds to be selected for the study. Here is a link: http://www.aht.org.uk/cms-display/genetics_gdg_participating_breeds.html Please don't hesitate to contact me should you have any questions. Lucy Heyman, Chairman, BTCA Health and Wellness Committee |
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