Irish researchers have made an important breakthrough which gives new hope to sufferers of hereditary emphysema – one of the most common fatal inherited lung conditions in this country – and may be applicable to other autoimmune diseases such as rheumatoid arthritis.
Researchers from the Royal College of Surgeons in Ireland (RCSI) and Beaumont hospital have shown how the protein Alpha-1 Antitrypsin (AAT) plays an important role in controlling inflammation from white blood cells.
Hereditary disorder
Patients deficient in AAT suffer from Alpha-1 Antitrypsin Deficiency, a hereditary disorder that leads to the most severe form of hereditary emphysema. After cystic fibrosis, Alpha-1 is the most common fatal inherited lung condition in Ireland and is much more common here than in most other countries.
The disease causes shortness of breath in its mildest form and in its severest form, patients must use an oxygen mask and may need a lung transplant.
Prof Gerry McElvaney, professor of medicine at RCSI and senior author on the study, said the disorder was estimated to affect more than 12,000 people nationally in its severest forms and as many as 170,000 in its less severe form.
AAT is a protein produced by the liver which, when released into the bloodstream, travels to the lungs to protect lung tissue from disease.
'Harmful oxidants'
"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," said Prof McElvaney.
He explained this finding suggested for the first time that Alpha-1 was not purely a lung and liver disorder but was much more systemic and treatments may also be used for other autoimmune disorders.
The RCSI/Beaumont team are working on a new treatment for Alpha-1 which involves taking purified Alpha-1 protein from the bloodstream of a person without a deficiency in AAT and giving it intravenously to people with a deficiency. This results in a decrease in the abnormal protein release which alleviates the disease-associated autoimmunity.
"The data would suggest we can decrease the progression of emphysema by using this therapy and it may also be applied to other autoimmune diseases," said Prof McElvaney.
