Irish researchers have made a major breakthrough in the understanding of hereditary emphysema.

With emphysema, the air sacs (alveoli) in the lungs are damaged or destroyed. This means the body does not get the oxygen it needs, which can lead to severe breathlessness. Patients may eventually require a lung transplant.

The scientists from the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital in Dublin discovered that AAT (Alpha-1 Antitrypsin) is an important protein that is produced by the liver and when it is released into the bloodstream, it travels to the lungs and protects the tissue there from disease.

If a person is deficient in AAT, they develop a condition known as Alpha-1 (Alpha-1 Antitrypsin Deficiency). This is a hereditary condition that leads to the most severe form of hereditary emphysema.

The first single and double lung transplant recipients in Ireland were patients with Alpha-1. An estimated 12,000 people here are affected by the most severe form of Alpha-1, however as many as 200,000 people may have a milder form.

Alpha-1 is significantly more common in Ireland than in many other countries. It is currently the most common fatal inherited lung condition in this country after cystic fibrosis.

"Our study is the first to reveal the mechanisms by which a lack of the Alpha-1 protein causes an increase in the release of white blood cell proteins into the blood stream. This leads to an autoimmune process in the body that mistakenly recognises these proteins as foreign and activates its own white blood cells to produce harmful oxidants," explained the study's lead author, Prof Gerry McElvaney of the RCSI.

The scientists also discovered that a treatment known as augmentation therapy could help. With this therapy, Alpha-1 protein that is purified from blood, is given intravenously to the patient. This leads to a decrease in the abnormal protein release, ‘thereby alleviating the disease-associated autoimmunity'.

"This research gives new hope for a better quality of life for sufferers of this chronic condition and may also be applied to other autoimmune associated diseases such as rheumatoid arthritis," Prof McElvaney said.

Details of these findings are published in the journal, Science Translational Medicine.