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Dogs help researchers understand rare genetic respiratory disease in people

EU-funded scientists studying dogs have discovered a novel gene that triggers primary ciliary dyskinesis (PCD), a rare genetic respiratory disease found in both humans and canines. Presented in the journal Nature Genetics, the research was funded in part under the EU's Seventh...
Dogs help researchers understand rare genetic respiratory disease in people
EU-funded scientists studying dogs have discovered a novel gene that triggers primary ciliary dyskinesis (PCD), a rare genetic respiratory disease found in both humans and canines. Presented in the journal Nature Genetics, the research was funded in part under the EU's Seventh Framework Programme (FP7). The researchers say the findings open up possibilities for investigations into new PCD therapies in the dog model, and provide insight into how dogs can help medical experts shed light on genetic diseases in humans.

In particular, the discovery was made by the LUPA ('Unravelling the molecular basis of common complex human disorders using the dog as a model system') project, which is backed with EUR 12 million under the Health Theme of FP7. The study was also supported by two other FP7-funded projects, namely EUCILIA and SYSCILIA. EUCILIA ('Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes') has received EUR 2.93 million in funding and SYSCILIA ('A systems biology approach to dissect cilia function and its disruption in human genetic disease') has clinched more than EUR 11 million in support.

Current data show that 1 in 20,000 people suffer from PCD, which triggers chronic respiratory infections. PCD is associated with an abnormality of cellular micro-cilia, hair-like structures responsible for various tasks including protecting us from germs in the lungs. Microorganisms contained in the air are expelled by the flapping of micro-cilia. PCD obstructs this flapping motion, allowing infections to lodge in our lungs. Experts have known for some time that many gene mutations are behind this disease's appearance, but almost two thirds of human cases could not be explained.

To get a handle on the genetic origin of various human diseases, the researchers gathered and compared DNA (deoxyribonucleic acid) samples from purebred dogs that were either healthy or suffering from similar diseases to humans. Both humans and dogs suffer from a number of common disorders such as cancer, diabetes and epilepsy.

A growing number of researchers in the biomedicine field use sickly dogs to investigate which genes are responsible for diseases found in people. In 2007, scientists from the University of Liège's Faculty Veterinary Medicine assessed Old English Sheepdog (bobtail) puppies diagnosed with chronic airway inflammation. The researchers believed there was a connection between a gene and the disorder, thus putting PCD in the spotlight particularly because one of the pups had a situs inversus (a reversal of an organ's normal position in the thoracic cage).

In this study, led by experts from the GIGA-Research Unit at the University of Liège (GIGA-ULg Unit) in Belgium, the team assessed the DNA of five sickly bobtails and compared it with that of 15 healthy bobtails. Using 40,000 genetic markers, the researchers identified a region of canine chromosome 34 linked to the disease, and a mutation within gene CDC39.

'We were thus able to identify 15 different mutations of this disease,' says Dr Anne-Christine Merveille from the GIGA-ULg Unit, lead author of the study. 'These mutations explain half of the cases analysed, or close to 5% of the patients throughout the world who are suffering from this disease.'

For her part, LUPA project coordinator Dr Anne-Sophie Lequarré, one of the authors of the study, adds: 'The demonstration of this gene's responsibility in this pathology will enable the families affected to be better advised.'

Commenting on the use of dogs in research for human health, and the pioneering work of LUPA, Commissioner for Research, Innovation and Science Máire Geoghegan-Quinn underlines: 'This shows that pet dogs are not only man's best friend but also suffer from many of the same illnesses and can help us understand and treat those illnesses. I congratulate all those involved in this study. LUPA is an excellent example of innovative and groundbreaking health research that will benefit both humans and dogs and advance medical knowledge.'

Experts from Belgium, Denmark, France, Germany, Israel and the US made major contributions to this study.

Source: Nature Genetics; University of Liège; European Commission�

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Record Number: 32858 / Last updated on: 2010-12-10
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