Peer-reviewed veterinary case report
Mutation in CHAT gene causes muscle disease in Old Danish Pointing
By Proschowsky, Helle Friis et al.·Published in The Journal of heredity·2007·Department of Animal and Veterinary Basic Sciences·View original on PubMed →
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Original publication title: Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome.
- Species:
- dog
Plain-English summary
A group of Old Danish Pointing Dogs with a muscle disease called congenital myasthenic syndrome was found to have a specific genetic mutation in the CHAT gene, which is important for muscle function. This mutation affects the production of a neurotransmitter that helps muscles work properly. A DNA test has been created to help breeders identify dogs that carry this mutation, allowing for better management and breeding decisions to reduce the disease in future generations.
People also search for: Old Danish Pointing Dog muscle disease · congenital myasthenic syndrome in dogs · genetic testing for dog breeds
Abstract
The presence of a recessive inherited muscle disease in Old Danish Pointing Dogs has been well known for years. Comparisons of this disease with myasthenic diseases of other dog breeds and humans have pointed toward a defect in the synthesis of the neurotransmitter acetylcholine possibly due to decreased activity of the enzyme choline acetyltransferase. We sequenced exons 5-18 of the gene encoding choline acetyltransferase (CHAT) in 2 affected and 2 unaffected dogs and identified a G to A missense mutation in exon 6. The mutation causes a valine to methionine substitution and segregates in agreement with the inheritance of the disease. The mutation was not detected in 50 dogs representing 25 other dog breeds. A DNA test has been developed and is now available to the breeders of Old Danish Pointing Dogs.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/17586598/