Von Willebrand's disease (von Willebrand disease, vWD) - one of the most common hereditary disease associated with blood coagulation problems. Symptoms are similar to hemophilia, in connection with what is sometimes called von Willebrand disease psevdogemofiliey.
The most characteristic and specific symptom vWD are bleeding from mucous membranes of the mouth, the nose, the internal organs. Manifestation of vWD may have different degrees of severity depending on the dog's individual characteristics. In the mild form of the disease is characterized by moderate bleeding, in more serious cases - extensive and extremely heavy.
Cause of the disease - quantitative deficiency and / or qualitative abnormalities of vWF, a multimeric glycoprotein required for platelet adhesion to collagen at sites of vascular wall damage. This factor is also associated with Factor VIII clotting and protects it from proteolysis. As a rule, vWD is hereditary, but also found and acquired forms.
The most common and thus less severe on the symptomatology is the first type of vWD, occurring in a large group of species: Basset hound, Bernese mountain dog, Doberman, Doberman Pinscher, Kerri Blyu terrier, Miniature Schnauzer, German shepherd, poodle, rottweiler, dachshund, Papillon, Staphylococcus retriever, etc.
Dogs vWD I-th type has an autosomal recessive mode of inheritance, which means that for the manifestation of the disease requires two copies of the mutant gene.
Molecular reason vWD I-th type - mutation c.7437G> A gene vWF vWF. This mutation leads to a reduction in the number of normal factor of 10-20% of the norm, though, as it turns out, for some dogs, in connection with the individual characteristics, this amount is sufficient for virtually asymptomatic vWD.
To carry out a genetic test requires a blood sample or buccal (mouth swab). When testing is analyzed c.7437G> A mutation resulting in the development of the disease. The test detected faulty (mutated) copy of the gene and a normal copy of the gene. The test result - the definition of the genotype, which allows you to divide the animals into three groups: healthy (homozygous for the normal copy of the gene), carriers (heterozygotes) and patients (homozygous for the mutation).
|Genotype||Decoding of genotype||Status||Recommendations for planning matings|
|N / N||homozygote for the normal copy of the gene||healthy||It can be crossed with any dog, an extremely low probability of a patient birth of offspring|
|N / M||heterozygote||carrier||If the binding is necessary, allowed crossing with healthy dogs; all resulting progeny should be tested on a carrier of the disease|
|M / M||homozygous for the mutant copy of the gene||prone to disease / patient||It is recommended to remove from mating. If the binding is necessary, it allowed crossing with healthy dogs, in this case, all the resulting offspring will be heterozygous (carriers)|
Dilated Cardiomyopathy (DCM) is a severe hereditary disorder present in Doberman Pinschers and other breeds that ultimately leads to heart failure and sudden death.
Heart disease, due to the weakening of the heart muscle. As the chamber of the heart disease may increase, disrupts the valves and develop symptoms of congestive heart failure.
The disease has a wide range of rate of progression: from a few months to several years depending on the conditions of life of the animal and physical state.
In 2012, a group of scientists including lead author Dr. Kathryn Meurs published an article reporting a mutation associated with increased risk for DCM in a cohort of Doberman Pinchers in America. This mutation is located in the PDK4 gene (Meurs et al., 2012), which encodes a protein of the mitochondrion, the cells power source - a vital part of the cell in which malfunctions are often disastrous.
Narcolepsy - a disease which manifests itself in the form of abnormal daytime sleepiness, sleep disorder the night with rapid eye movements and a sharp decrease in muscle tone in response to various external stimuli.
The disease in Doberman associated with the appearance of a SINE insertion into the 3rd intron Hcrtr2 gene (Hypocretin (orexin) receptor 2), which leads to drastic changes in splasinge RNA and, as a consequence, in the protein.
Interpretation of results
Autosomal recessive mode of inheritance
MM - sick; NM - healthy carrier; NN - healthy