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Research breakthrough in understanding hereditary emphysema

Date:
January 13, 2014
Source:
Royal College of Surgeons in Ireland (RCSI)
Summary:
Researchers have made an important breakthrough in the understanding and treatment of hereditary emphysema. Their research bridges the research-to-treatment gap. The exciting findings show how the protein Alpha-1 Antitrypsin (AAT) plays an important role in controlling inflammation from white blood cells and its importance for good health.

Researchers from the Royal College of Surgeons in Ireland (RCSI) and Beaumont Hospital have made an important breakthrough in the understanding and treatment of hereditary emphysema. Their research findings were published in this month's edition of Science Translational Medicine, a journal that highlights medical advances resulting from scientific research, thus bridging the research-to-treatment gap. Their exciting findings show how the protein Alpha-1 Antitrypsin (AAT) plays an important role in controlling inflammation from white blood cells and its importance for good health.

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The research found that Alpha-1 Antitrypsin (AAT) is an important protein produced by the liver which, when released into the bloodstream travels to the lungs to protect the lung tissue from disease. Patients deficient in AAT suffer from Alpha-1 Antitrypsin Deficiency (Alpha-1); a hereditary disorder that leads to the most severe form of hereditary emphysema.

Professor Gerry McElvaney, Professor of Medicine at RCSI and senior author on the study commented: "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"

"Our research also reveals how a treatment known as augmentation therapy, where Alpha-1 protein purified from blood, is given intravenously, leading 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 continued.

Alpha-1 Antitrypsin (AAT) is a protein produced by the liver which, when released into the bloodstream travels to the lungs to protect the lung tissue from disease. Patients deficient in AAT suffer from Alpha-1 Antitrypsin Deficiency (Alpha-1); a hereditary disorder that leads to severe emphysema. Emphysema (otherwise known as chronic obstructive pulmonary disease (COPD)) is caused by inflammation of the alveoli, the sponge-like tissues that take oxygen into the lungs. 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. The first single lung and first double lung transplant recipients in Ireland were people with Alpha-1.


Story Source:

The above story is based on materials provided by Royal College of Surgeons in Ireland (RCSI). Note: Materials may be edited for content and length.


Journal Reference:

  1. D. A. Bergin, E. P. Reeves, K. Hurley, R. Wolfe, R. Jameel, S. Fitzgerald, N. G. McElvaney. The Circulating Proteinase Inhibitor  -1 Antitrypsin Regulates Neutrophil Degranulation and Autoimmunity. Science Translational Medicine, 2014; 6 (217): 217ra1 DOI: 10.1126/scitranslmed.3007116

Cite This Page:

Royal College of Surgeons in Ireland (RCSI). "Research breakthrough in understanding hereditary emphysema." ScienceDaily. ScienceDaily, 13 January 2014. <www.sciencedaily.com/releases/2014/01/140113100455.htm>.
Royal College of Surgeons in Ireland (RCSI). (2014, January 13). Research breakthrough in understanding hereditary emphysema. ScienceDaily. Retrieved April 1, 2015 from www.sciencedaily.com/releases/2014/01/140113100455.htm
Royal College of Surgeons in Ireland (RCSI). "Research breakthrough in understanding hereditary emphysema." ScienceDaily. www.sciencedaily.com/releases/2014/01/140113100455.htm (accessed April 1, 2015).

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