Mannosidosis, alpha

 

Gene: LAMAN

Transmission: Autosomal recessive

For an autosomal recessive genetic disease, an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease, but are carrier animals that can pass the mutation on to future generations.

Mutation: Deletion, LAMAN gene; c.1748 del. 4bp, p.(Q584A fs)

Medical system: Neurologic

Breeds: Domestic Longhair, Domestic Shorthair, Persian

Age of onset of symptoms: by 2 to 3 months

Alpha-mannosidosis is a genetic disease caused by an deficiency of the enzyme alpha-mannosidase, found in the lysosomes of cells and involved in sugar metabolism.  The nervous system is particularly affected by this defect.  Neurological signs begin to occur by 2 to 3 months of age and include tremors of the head and hind limbs, ataxia, eye problems, dementia and apathy.  Treatment is to relieve symptoms but is not curative.  Animals are usually euthanized for humanitarian reasons.

 

References:

OMIA link: [0625-9685]

Anderson H, Davison S, Lytle KM, et al. (2022) Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.  PLoS Genet. 16;18(6):e1009804.  [pubmed/35709088]

Berg T, Tollersrud OK, Walkley SU, et al. (1997) Purification of feline lysosomal a-mannosidase, determination of its cDNA sequene and identification of a mutation causing a-mannosidosis in Persian cats. Biochem. J 328:863-870. [pubmed/9396732]