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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