Lysosomal Storage Disease LSD Test Code 256
For breeds: Lagotto Romagnolo
Researchers from the University of Bern, together with colleagues from University of Helsinki have identified a novel mutation in the ATG4D gene that is associated with a newly characterized lysosomal storage disease in the Lagotto Romagnolo dogs . OptiGen is now pleased to provide Lagotto owners and breeders with a DNA test that detects the mutation associated with this debilitating neurodegenerative disorder.
Brief description of LSD in Lagottos:
Lysosomal storage diseases are a group of rare inherited metabolic disorders that result from defects in the function of lysosomes. Lysosomes are the "recycling center" in cells, and are supposed to process unwanted or worn out material into a substance that the cell can use. If such recycling processes are disrupted, the unprocessed material builds up. Eventually the stored material builds up so much that the cell cannot function any longer, resulting in LSD. Inherited LSDs occur across different species, including humans and dogs.
In Lagotto Romagnolo dogs, the LSD disease is characterized by widespread swelling and accumulation of clear vesicles (vacuoles) in the cytoplasm of neuronal cells of central and peripheral nervous system. LSD-Affected dogs show clinical symptoms of progressive cerebellar ataxia, sometimes accompanied by episodic nystagmus (abnormal eye movements), clumsiness and behavioral changes, such as restlessness, depression and aggression towards people or other dogs. The age of onset of clinical signs can range from months to years and the rate of disease progression and its severity also varies significantly.
LSD in the Lagotto is inherited as an autosomal recessive disease, which means that only dogs that have inherited two copies of the mutation (one from each parent) will develop this form of LSD. The great value of the DNA test is that it allows detection of carriers of one copy of the mutation. These dogs do not show clinical signs of the disease but they can pass the mutation on to their offspring. In order to avoid producing affected offspring, carriers of the rcd1b mutation should never be bred to other carriers or to affected dogs (see chart below).
1. Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, et al. A Missense Change in the ATG4D Gene Links Aberrant Autophagy to a Neurodegenerative Vacuolar Storage Disease. 2015. PLoS Genet 11(4): e1005169.
Page last updated February 21, 2017
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