Contact
Miroslav Hornak, Ph.D.
Genetics and Reproduction
Veterinary Research Institute
Hudcova 70
621 00 Brno
Czech Republic
 
tel.:     +420 776 850 577
email:  info@genocan.eu
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Genetic test for Malignant Hyperthermia

Malignant hyperthermia is a life-threatening syndrome, occurring in all breeds of dogs. It is a congenital disorder of skeletal muscle where which manifest by the significant increase in temperature (hyperthermia) up to 45 ° C, accelerated and irregular heart rate (tachycardia and arrhythmia), hyperventilation, muscle rigidity and may result in renal failure and death.
 
In genetically susceptible individuals, a particular group of volatile anesthetics (e.g. halothane, sevoflurane, isoflurane) triggers the symptome. If the above-mentioned manifestations of malignant hypetermie after administration of anesthesia occurs, the anesthesia must be immediately discontinued, the dog has to be cooled and treated with medication decreasing muscle tone.
 
Increased stress, for example, excessive exercise, staying in adverse conditions (non-ventilated room, the higher the temperature in a room or car) or upper respiratory disease, may lead to arbitrary clinical signs of malignant hyperthermia in susceptible dogs.

Malignant hyperthermia in dogs is caused by mutation in the ryanodine receptor ( RYR1 gene), due to amino acid exchange at position 547 (valine to alanine substitution ) in the naturally-forming protein. Malignant hyperthermia is an autosomal dominant disease. Mutations in only one of the two copies of the gene RYR1 is sufficient for the development of the disease. The risk of the transmission of the disease to the offspring of 50 %.

The advantage of genetic testing is to determine (exclude) the risk of the syndrome after administration of anesthesia and to avoid the risk of disease in a litter of both tested parents without mutation.

The test can be performed from 0,5-1ml collected blood or buccal swab.
If you are interested in this genetic test you can find all the information in the section order a test.