Dog hereditary diseases

"Neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disease related to lysosomal accumulation diseases. Pathology leads to the accumulation of the pigment lipofuscin in nerve cells and other tissues of the body. Lipofuscin is found everywhere in all tissues and organs and is formed as a result of the oxidation of unsaturated fats and when organelle membranes are damaged. The disease is associated with the c.1118C > T mutation, the replacement of one nucleotide in the ATP13A2 gene, which encodes a transmembrane ion transporter important for the function of lysosomes. These cellular structures contain a large number of hydrolytic enzymes, providing, in particular, the cleavage of cell metabolites. The mutation causes a violation of the function of lysosomes, which leads to the accumulation of by-products of vital activity, including lipofuscin. The pigment accumulated in the nerve cells prevents the impulse from passing through them, causing symptoms characteristic of the disease. The nature of the inheritance of the disease is autosomal recessive. The disease develops only if both copies of the gene contain a mutation. Symptoms: In the studied animals, the first signs of the disease appeared at the age of 6 years. Symptoms include restlessness, sleep disturbances, trembling, seizures, loss of coordination, visual disturbances. Cognitive changes such as impaired ability to recognize and respond to previously learned commands, aggression, hyperactivity and dementia are also observed. "