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Description
Osteogenesis imperfecta (OI) is a hereditary disease characterized by defects in type I collagen, the main protein component of connective tissue and bone extracellular matrix. The highly ordered structure of its fibrils stabilizes the tissue of bones, teeth, ligaments and tendons. Thus, the main manifestations of the disease are fragile bones with a high tendency to fracture and imperfect dentinogenesis, known as glass teeth.
The most common genetic cause of OI is abnormalities in the genes encoding type I collagen, COL1A1 and COL1A2. However, for dachshunds, a different nature of the disease has been shown - a mutation in the conserved domain of the SERPINH1 gene, whose function is to help in the correct collagen folding. OI is a congenital disorder. The researchers also observed a significant increase in the mortality rate among the offspring of carriers, which may indicate some lethal effect of the SERPINH1 gene mutation. Genotyping of 1,352 Dachshund dogs (Eckardt et al., 2013) showed that OI is mainly a problem in wire-haired dachshunds, where the allele frequency was about 17% (most of the dogs were from Germany).
Symptoms
Dachshunds affected by OI have typical clinical manifestations: decreased mobility, signs of pain during manipulation, brittle and translucent teeth, hyperelasticity of joints, spontaneous fractures of long bones and ribs.
Diagnostics
Characteristic changes in the behavior and physiology of the dog.
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