Geneticists have pinpointed a rare gene mutation that causes a devastating neurological disorder in beagles and created a DNA test to screen for it.

Geneticists have pinpointed a rare gene mutation that causes a devastating neurological disorder in beagles and created a DNA test to screen for it.

Young beagleThe discovery of the genes leading to neonatal cerebellar cortical degeneration (NCCD), made by a PhD student working at the Animal Health Trust’s (AHT) Kennel Club Genetics Centre, is also believed to be the first time RNA sequencing has been used to look for genes that cause mutation.

The work was made possible after a beagle breeder donated the body of a euthanised puppy that had suffered NCCD to the AHT.

Normally, scientists spot mutations by comparing DNA from control subjects with DNA from affected dogs.

The process can be time-consuming, as researchers have to find diseased animals in the first place. However, by scanning the donated dog’s RNA, PhD student Oliver Forman was able to isolate the relevant gene mutation.

“As far as we know, this is the very first time RNA sequencing has been used in this way, in any species, to identify a disease-associated mutation,” said Cathryn Mellersh, head of canine genetics at the AHT.

“Although this particular puppy’s story was a very sad one, the breeder did all the right things by bringing the puppy to the AHT, where our highly skilled veterinary neurologists were able to team up with The Kennel Club-funded genetics team to solve this disease.”

AHTNCCD is incurable and the AHT estimates around five out of every 100 beagles are probably carriers. However, the gene is recessive, so as long as carriers are identified it is safe to mate them with dogs that do not carry the mutation.

“Because we have identified the mutation for NCCD before it has had a chance to become very widespread, breeders have the means to eliminate this mutation from the breed with very little trouble, before the disease ever becomes a problem in the UK” Dr Mellersh added.

The Kennel Club’s chairman Steve Dean said he was delighted at the development of the test, especially as it was at an early stage of identifying NCCD in the UK beagle population.
 
The DNA test for NCCD is available from the AHT and will be offered in combination with a DNA test for Musladin-Lueke syndrome. The test costs £48 and more details are available at www.ahtdnatesting.co.uk

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