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Alpha-1 antitrypsin (AAT):

Alpha-1 antitrypsin (AAT) is aprotein that is produced in the liver and released into the bloodstream. AAT helps to inactivate several enzymes but primarily works to protect the lungs from elastase. Elastase is an enzyme produced by neutrophiland it is part of the body’s normal response to injury and inflammation. Elastase breaks down proteins so that they can be removed and recycled by the body but, if its action is not regulated by AAT, elastase will also begin to break down and damage lung tissue


AAT is produced at the direction of two copies of a protease inhibitor (SERPINA1) gene. This gene is co-dominant, which means that each SERPINA1 gene copy is responsible for producing half of the body’s AAT. If there is a change or mutation in one or both of the gene copies, then less AAT and/or dysfunctional AAT is produced. If the resulting AAT production drops down to 30% of normal or less, then the affected person will experience a disorder called alpha-1 antitrypsin deficiency. Patients with this disorder are at a considerable risk of developing emphysema, a progressive lung disease, in early adulthood. If they smoke, or are exposed to occupational dust or fumes, the lung damage tends to occur sooner and be more severe

The test used to

diagnose the cause of early onset emphysema and liver dysfunction; to establish the risk of developing alpha-1 antitrypsin deficiency-related emphysema and liver disease and determine the likelihood that children might inherit the risk

هو بروتين يتم انتاجة داخل الكبد ثم ينتقل الى الدم وهو يعمل على تعطيل الانزيمات حيث تحمى الرئة من انزيم يسمى الايلستاز وهو انزيم يعمل لتحطيم انسجة الرئة ولكن ال AAT يعمل على تعطيله
وهذا البروتين يتم انتاجة عن طريق نسختين من جين ال SERPINA1 حيث ان كل نسخة مسئولة عن انتاج نصف كمية البروتين فى الجسم
وحدوث اضطراب فى انتاج هذا البروتين يؤدى الى امراض فى الرئة مثل انتفاخها

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