A whole host of personal traits are determined in part by your DNA. One of these is alpha-1 antitrypsin deficiency (AATD). Alpha-1 antitrypsin deficiency (AATD or Alpha-1) is a frequently underdiagnosed hereditary condition in which the body produces too little and/or malformed alpha-1 antitrypsin protein (AAT). Alpha-1 antitrypsin is an enzyme inhibitor (protease inhibitor, PI) that is mainly produced in the liver.
The main function of the AAT protein is to inhibit so-called proteolytic enzymes (enzymes that break down proteins – or proteases for short) in various tissues, such as the lungs, thereby protecting the body against tissue damage.
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Alpha-1 antitrypsin deficiency (AATD) and heredity
Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene. There are various known mutations in the SERPINA1 gene and these have differing impacts.
Most mutations result in reduced production of the alpha-1 antitrypsin protein (AAT protein). This can vary from slightly reduced production to no AAT production at all. There is also a specific mutation that causes misfolding of AAT, preventing the protein from functioning. On the basis of your DNA it is therefore possible to predict your personal predisposition to AATD.
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Check your genetic predisposition to AATD
Would you like to find out your genetic predisposition to alpha-1 antitrypsin deficiency (AATD)? If you request an iGene Passport, you will have an insight into your own DNA profile within 6 weeks and will be able to check this straight away – as well as your genetic predisposition to various other personal traits, external features and hereditary conditions.
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iGene: live a happier life thanks to the latest scientific insights
As well as informing you about various personal traits, an iGene Passport will also provide you with information on all kinds of hereditary conditions. In addition, you will receive targeted information that will help you to reduce the risk of developing them. If you make use of our message service, you will continue to receive information based on the latest scientific insights.