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LEMP Rottweiler and Great Dane Type
| Acronym: | LEMP |
| Gene: | NAPEPLD |
| Mutation: | c.345_346insC |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
LEMP Rottweiler and Great Dane Type is a central nervous system disease (also known as white matter disease) affecting those two dog breeds. LEMP stands for Leukoencephalomyelopathy. Except in Rottweilers and Great Danes, the disorder has been described also in Leonbergers, but in this dog breed, the LEMP is caused by a different causative mutation. Similar diseases with similar symptoms have been recognized in Afghan Hounds, West Highland white terriers, miniature Poodles, Dalmatians, Jack Russell terriers, and fox terriers. A similar disorder has been observed in human patients, and the identification of a causative mutation of LEMP in these dog breeds reveals a novel candidate gene for human myelin disorders.
Symptoms of Leukoencephalomyelopathy in affected dogs include the inability to control bodily movements, inability to judge distance, generalized muscle weakness, hypermetria, and exaggerated spinal reflexes. Neuronal examination revealed myelin breakdown, followed by swelling of the axons. Due to the progressive derogative nature of the disorder, affected dogs are usually euthanized. The symptoms usually appear at an animal’s young age.
Leukoencephalomyelopathy Rottweiler and Great Dane Type (LEMP) is caused by a mutation within the gene NAPEPLD. NAPEPLD (N-acyl phosphatidylethanolamine phospholipase D) gene encodes for an enzyme of the endocannabinoid system, important in myelin regulation. Population testing reveals a carrier rate of 8% among Rottweilers. The carrier rate among Great Danes was also 8%, although no affected Great Danes have been observed yet. The disorder is inherited in an autosomal recessive pattern. Healthy parents of an affected puppy are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes have no symptoms. Dogs homozygous for the mutation will display the symptoms of the LEMP. At conception, when mating two carrier dogs, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
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:
Oevermann, A., Bley, T., Konar, M., Lang, J. and Vandevelde, M. (2008): A novel leukoencephalomyelopathy of Leonberger dogs. Journal of Veterinary Internal Medicine, 22: 467–471. doi:10.1111/j.1939-1676.2008.0068.x
Minor KM, Letko A, Becker D, et al. (2018) Canine NAPEPLD-associated models of human myelin disorders. Scientific Reports 8, Article number: 5818. doi:10.1038/s41598-018-23938-7