Deutsch
Hrvatski
Русский
Português
Cardiomyopathy With Juvenile Mortality
| Acronym: | CJM |
| Gene: | YARS2 |
| Mutation: | c.1054G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Cardiomyopathy is a disease that belongs to a larger group of heart muscle diseases that affect the ability of heart to pump blood around the body. It is a common cardio disease, not only in humans but also in various types of animals including dogs and it can have a genetic cause, meaning a specific mutation occured and is passed to the offspring. A specific type of cardiomyopathy that is usually followed by juvenile mortality is found in Belgian Shepherd dogs. Symptoms of the disease that were examined in affected puppies include intermittent vomiting, mild signs of inflammation in the central nervous system, and a very pale and enlarged heart. The cause of disease and juvenile death is likely due to the degenerative changes in the heart, leading to myocardial failure. The cause of cardiomyopathy in Belgian Shepherd dogs is a mutation in the YARS2 gene that encodes the mitochondrial tyrosyl-tRNA synthetase 2. Aminoacyl-tRNAs are enzymes required for protein translation and they deliver the amino acids that are incorporated into nascent peptide chains.
This lethal cardiovascular disease found in Belgian Shepherd dogs is inherited as an autosomal recessive trait, requiring two copies of the mutated gene for the disease to develop. Dogs with only one copy of the mutated gene will not develop the disease but may act as carriers and pass the mutation to their offspring. Early detection by genetic testing can identify affected dogs and help breeders in selecting mating pairs and preventing the future development of the disease.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Gurtner, C., Hug, P., Kleiter, M., Köhler, K., Dietschi, E., Jagannathan, V., Leeb, T. (2020). YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality. Genes, 11(3), 313. https://doi.org/10.3390/genes11030313