Inherited emphysema | Children's Charity

Inherited emphysema

This research was completed on 30 October 2006

Project LeaderDr R Mahadeva MD
LocationDepartment of Medicine, University of Cambridge
Grant awarded10 November 2003
Start date1 July 2004
End date30 October 2006
Grant amount£85,174.00
Grant codeSP3930

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Alpha-1 antitrypsin is a major anti-inflammatory protein in the lung. One in 2000 Northern Europeans have inherited a variant of this protein with an abnormal structure. This ‘misfolded’ protein accumulates in the liver causing childhood cirrhosis (degeneration of the liver), and emphysema (lung disease) from the age of thirty. There is no cure for the emphysema. Affected individuals suffer with chronic breathlessness as the lungs are progressively destroyed and the patients eventually die from respiratory failure. This new research indicates that the abnormal protein causes harmful inflammation in the lungs. The aim is to study lung tissue from individuals who have the abnormal protein to find out how the protein causes the lung disease. In so doing they hope to design new treatments for this distressing disease.

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