Osteogenesis Imperfecta (SERPINH1 gene, Dachshund)

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disease that affects collagen production in the body. Collagen is a crucial protein that helps strengthen bones.

Symptoms

Characteristic symptoms of OI include: difficulty moving or limping, bone pain and tenderness, bone deformities, bones that fracture easily, joint laxity, dental problems. Other possible signs include hearing loss and growth retardation.

Disease Management

Currently there is no cure for OI so the focus of treatment is on managing the symptoms and improving the animal's quality of life. If you suspect that your dog may have symptoms of the disease you should consult your veterinarian for the most appropriate treatment. This may include the use of pain medications, physical therapy, and in some cases, surgery to stabilize the bones.

Genetic basis

This disease follows an autosomal recessive mode of inheritance. Autosomal recessive inheritance means that the dog, regardless of sex, must receive two copies of the mutation or pathogenic variant to be at risk of developing the disease. Both parents of an affected dog must carry at least one copy of the mutation. Animals with only one copy of the mutation are not at increased risk of developing the disease, but may pass the mutation on to future generations. Breeding between dogs carrying genetic variants that can cause disease, even if they do not show symptoms, is not recommended.

Technical report

Canine OI is associated with autosomal dominant mutations in the genes coding for the alpha1 and alpha2 subunits of collagen type 1, COL1A1 and COL1A2 respectively, and with an autosomal recessive mutation in the SERPINH1 gene, involved in collagen maturation. The disease has been observed in several breeds such as Golden Retriever, Collie, Poodle, Beagle, Norwegian Elkhound, Dachshund and Bedlington Terrier. However, OI-causing mutations have only been identified in Beagle, Golden Retriever, Dachshund and Chow Chow. Thanks to the study by Drögemüller et al. it is known that the SERPINH1 gene variant causing OI in Dachsunds is c.977T>C, which is the one we analyze here. The SERPINH1 gene plays an important role in the assembly of procollagen chains. A subsequent study by Lindert et al. investigated the functional impact of c.977T>C, finding that procollagen accumulated within the endoplasmic reticulum of cells and activated the cellular stress response. In addition, excessive modification and abnormal binding of bone collagen was observed.

Most affected breeds

  • Dachshund

Bibliography

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