Peer-reviewed veterinary case report
COMMD1 gene deletion linked to copper toxicosis in Korean Bedlington
By Kim, Y G et al.·Published in Journal of veterinary internal medicine·2016·Department of Internal Medicine, South Korea·View original on PubMed →
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Original publication title: Prevalence and Clinical Relevance of Exon 2 Deletion of COMMD1 in Bedlington Terriers in Korea.
- Species:
- dog
Plain-English summary
A group of 105 Bedlington Terriers in Korea was tested for a genetic mutation that can lead to copper toxicosis, a serious condition affecting their liver. Nearly half of the dogs had the mutation, with those affected showing higher liver enzyme levels as they aged. The study found that dogs with the mutation had a lower survival rate, with only half surviving past four years. This information could help breeders make better choices to reduce the risk of this condition in future generations of Bedlington Terriers.
People also search for: Bedlington Terrier copper toxicosis · Bedlington Terrier liver problems · genetic testing for Bedlington Terriers
Abstract
BACKGROUND: Deletion of exon 2 of copper metabolism domain containing 1 (COMMD1) results in copper toxicosis in Bedlington terriers (CT-BT). OBJECTIVES: This study was conducted to identify the prevalence and clinical relevance of the COMMD1 mutation in Bedlington terriers in Korea. ANIMALS: A total of 105 purebred Bedlington terriers (50 males, 55 females) from the kennels and pet dog clubs in Korea were examined during the period 2008-2013. METHODS: A multiplex PCR was carried out to detect exon 2 deletion of COMMD1. Clinical analysis was performed on each genetic group, and clinical status of the dogs was followed up to estimate survival probability. RESULTS: Of the 105 samples, 52 (49%) were wild-type homozygote, 47 (45%) were heterozygote, and 6 (6%) were mutant-type homozygote. Plasma alanine aminotransferase (ALT) activity was increased in the mutant-type homozygous group >2 years of age (P < .0001). The survival probability of 6 mutant-type homozygotes surviving 2.5 years was 0.67, and 4 years was 0.5. CONCLUSIONS AND CLINICAL IMPORTANCE: Results show the prevalence and clinical relevance of exon 2 deletion of COMMD1 and could help establish a structured selective breeding program to prevent CT-BT in Korea.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27727471/