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CODE: C110
INTRODUCTION:
DESCRIPTION
Sleep is vital behavior of an unknown function that consumes one-third of any given human life. Narcolepsy is a
debilitating neurological disease characterized by abnormally fragmented night-time ‘REM’ sleep, constant day
time sleepiness, and irresistible ‘sleep attacks’ that occur even when the sufferer is walking and talking. It
is the only known neurological disease that specifically affects the generation and organization of sleep. In
1999, a ground-breaking study revealed the gene responsible for this disease in narcoleptic Doberman Pinschers.
Further studies have demonstrated a close similarity between human and canine narcolepsy. Researchers identified
that canine narcolepsy is caused by a mutation in the hypocretin receptor 2 gene (Hcrtr2). Cells' bodies that
contain hypocretins (a novel neuropeptide that possesses excitatory effects) are found in the hypothalamus, an
area of the brain responsible for various regulatory functions in the body. These neurons project into many other
areas of the brain, like the brainstem (where the pons are located), responsible for REM sleep. It is hypothesized
that hypocretins may play a role in modulating neurons involved in REM sleep, helping in the interaction between
two chemical systems in the brain, the aminergic and the cholinergic. Researchers also hypothesized that when the
Hcrtr2 is stimulated, administration of hypocretins promotes wakefulness and represses REM sleep in normal, but
not narcoleptic animals.
INHERITANCE
Canine narcolepsy in Doberman Pinschers and Labrador Retrievers shows an autosomal recessive mode of inheritance;
therefore two copies of the defective gene (one inherited from each parent) have to be present for a dog to be
affected by the disease. Dogs with one copy of the defective gene and one copy of the normal gene - called
carriers - show no symptoms but can pass the defective gene onto their offspring. When two apparently healthy
carriers are crossed, 25% (on average) of their offspring will be affected by the disease with a further 50% being
carriers themselves.
DNA TEST
Canines affected with narcolepsy typically display symptoms that are specific to the disease. Therefore, diagnosis
of this disorder is usually based on clinical findings. Carriers of the gene responsible for narcolepsy display no
symptoms of disease and therefore, cannot be identified by clinical observation. Recently, a DNA-based test for the
detection of the gene responsible for narcolepsy in Doberman Pinschers and Labrador Retrievers became available.
Since this test directly targets the narcoleptic gene, it is 100% accurate and provides breeders with definitive
information on the genetic status of their animals. Breeders can use this information to detect carriers and
eliminate this disease from their breeding lines.
BREEDS:
Doberman Pinscher
Labrador Retriever
TEST RESULTS:
| Result |
Interpretation |
| Normal |
Homozygous for normal gene, will never develop the disease |
| Carrier |
Carries one mutant gene, but will never develop the disease |
| Affected |
Homozygous for disease gene and will develop the disease |
SAMPLES:
Two types of samples can be submitted for this DNA test:
- A blood sample in a lavender (EDTA) tube;
- Cheek swabs - Order a Sample Collection Kit!
PRICE:
- $85.00 *
Special contract prices are available for Breeder Clubs. Please contact us for more information.
* - subject to the applicable taxes (5% GST Canadian Residents only)
CERTIFICATION OF RESULTS:
HealthGene will provide a certificate for each test result.
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