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Pet research may help with a rare human respiratory illness
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09/12/2010 00:00:00

An EU-funded research team, including four UK universities, has discovered a new gene responsible for the development of a human respiratory disease thanks to the study of the same illness which naturally occurs in pet dogs. This rare genetic disease, primary ciliary dyskinesis (PCD), affects one in 20,000 people and causes chronic respiratory infections. The discovery was made by the LUPA project which seeks to improve our understanding of the genetic origin of a wide range of human diseases, by collecting and comparing DNA samples from purebred dogs that are healthy or affected by similar diseases as humans.

The study on PCD was led by the University of Liège in Belgium with the universities of Cambridge, Manchester, Liverpool and Nottingham as partners.

Máire Geoghegan-Quinn, Commissioner for Research, Innovation and Science said: "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 ground-breaking health research that will benefit both humans and dogs and advance medical knowledge."

Progress on tackling primary ciliary dyskinesis
The discovery sheds light on the mechanisms underlying the development of primary ciliary dyskinesis. Several mutations in about 10 genes were known to be responsible for the disease. Researchers of the LUPA project identified 15 other mutations in gene CCDC39 which explain at least 5 per cent of all PCD in the world. This will allow better genetic counselling for affected families and improve the diagnosis of affected people with clinical symptoms.


    Primary ciliary dyskinesis (PCD) is characterized by abnormally functioning cellular cilia. Cilia are very abundant at the surface of respiratory airways, their beating allow the progressive elimination of microorganisms from breathed air. When cilia are immotile or submotile, affected individuals frequently develop chronic respiratory infections.

    The LUPA project is receiving 12 million Euro (GBP 10 million) from the EU's Seventh Research Framework Programme and involves 22 partners from 12 European countries: Belgium, Germany, Denmark, Spain, France, Ireland, Netherlands, Finland, Sweden, UK, Norway and Switzerland. Its work is to gain more insight into at least 18 human illnesses including cancer, heart diseases, epilepsy and diabetes.

    In the present study, researchers analysed and compared the genetic material from 5 affected and 15 healthy Old English Sheepdogs, which led to the identification of one mutation on gene CCDC39 on chromosome 34. No dog was harmed during the study since researchers only collected the DNA. The researchers then verified if mutations in this gene could explain the disease in humans. 50 DNA samples from affected individuals suffering from PCD were sequenced. 15 different mutations were identified.


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