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New genetic study of IVDD in Dachshunds

After recently being contacted by a human rheumatologist, Professor Paul Freeman, who leads the Cambridge IVDD Research Group, has become aware of a genetic mutation in a gene called SLC13A1 which caused significant IVDD in the affected person. Variants in the same gene have previously been described as a cause of severe chondrodysplasia in Miniature Poodles and Texel sheep. It causes excessive sulphate excretion through the kidneys, which leads to proteins being affected and hence the potential effects on discs, amongst other things.

Following discussion with Dr Cathryn Mellersh at the KC Genetics Centre, now based at Cambridge University, the KCGC staff looked for variants in SLC13A1 within their database of whole genome sequences from over 200 dogs. They found just four variants within SLC13A1 in all the dogs they examined and one of those dogs was a Dachshund. The Dachshund’s variant was ‘private’, meaning it wasn’t found in any other dogs (so it is very rare). The KCGC sequenced the genome of this Dachshund because it was affected with a potentially inherited eye disease and we don’t know, at this stage, whether it also had IVDD. But the fact that it carries a very rare variant in an IVDD candidate gene raises the possibility that this variant/gene could potentially have an influence on IVDD.

We are initiating a small study to look specifically for this variant in the DNA which the Genetics Centre has from over 60 Dachshunds affected with IVDD (affected group), and a similar number which reached at least 10 years of age without being affected (control group). If we can show a difference in the frequency of this variant between the two groups, it would add weight to the possibility that it may be involved in IVDD.

At the same time, Cathryn would like to sequence the whole genome of two IVDD affected Dachshunds and her team will also sequence the complete genome from an unaffected dog, for comparison. These genomes will join the KCGC genome bank and will represent a permanent resource for future IVDD investigations.

Dachshund Health UK (DHUK) will be funding this small-scale study which could have a significant future impact on the health of the breed. DHUK has ring-fenced funds which were donated by various Dachshund Breed Clubs for a previous project: “Give a dog a genome”. DHUK will be topping-up these funds to enable us to complete this new project.

We are grateful to the Dachshund breed clubs for their support and previous donations, together with others who have contributed to our research fund.

If you would like to donate towards our research projects, please use the link on our website.

Dachshund Health UK is a registered charity.


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