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Spinal Muscular Atrophy Maine Coon Type (SMA)
| Acronym: | SMA |
| Gene: | LIX1 |
| Mutation: | 140kb del |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Spinal muscular atrophy Maine Coon type is a genetic disorder of Maine Coon cats. It is a neurodegenerative disorder caused by the death of spinal cord neurons that activate skeletal muscles of the trunk and limbs. Loss of neurons in the first few months of life leads to muscle weakness and atrophy that first becomes apparent at 3-4 months of age. Affected kittens develop an odd gait with a sway of the hindquarters, and are usually too weak to jump and stand with the hocks nearly touching. By 5-6 months of age, severe weakness in the hindquarters is apparent and muscle mass is reduced. Affected cats are not in pain and most live very comfortably as indoor cats for many years.
The genetic cause of the recessive spinal muscular atrophy Maine Coon type in cats involves a large deletion on cat chromosome A1 removing two genes. This disorder is inherited as an autosomal recessive trait. The affected kitten carried two mutated alleles of the disease, inherited from both parents. Parents may show no signs of disease, but in this case, are obligated carriers.
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:
Fyfe, J. C., Menotti-Raymond, M., David, V. A., Brichta, L., Schäffer, A. A., Agarwala, R., O’Brien, S. J. (2006). An ~140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research, 16(9), 1084–1090. http://doi.org/10.1101/gr.5268806 PMID: 16899656
Iannaccone, S. T. (2005). Feline Spinal Muscular Atrophy. Pediatric Research, 57(3), 322–323. http://doi.org/10.1203/01.PDR.0000153671.11277.83