<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Alpha 1-antitrypsin (A1AT) deficiency is a one of the most common genetic disorders in Caucasians. It is characterised by low serum levels of A1AT and a high risk of pulmonary emphysema and liver disease at a young age. The disease is caused by mutations in the SERPINA1 gene, which belongs to a cluster of protease inhibitor genes, with the main protein function of reducing the activity of serine-type endopeptidases, like neutrophil elastase. The most common mutation is E342K (Z), which is frequently found in northern Europeans. This mutation most probably arose in southern Sweden; however, the highest frequency of the Z mutation reported so far is in western Latvia. A1AT deficiency is not a widely recognised clinical problem. Disease onset most probably occurs in early adulthood with non-specific symptoms, like dyspnoea and recurrent pulmonary events, and it is triggered by certain risk factors, like smoking and working in an unfavourable environment.</p></abstract>

Alpha 1-antitrypsin (A1AT) deficiency is a one of the most common genetic disorders in Caucasians. It is characterised by low serum levels of A1AT and a high risk of pulmonary emphysema and liver disease at a young age. The disease is caused by mutations in the SERPINA1 gene, which belongs to a cluster of protease inhibitor genes, with the main protein function of reducing the activity of serine-type endopeptidases, like neutrophil elastase. The most common mutation is E342K (Z), which is frequently found in northern Europeans. This mutation most probably arose in southern Sweden; however, the highest frequency of the Z mutation reported so far is in western Latvia. A1AT deficiency is not a widely recognised clinical problem. Disease onset most probably occurs in early adulthood with non-specific symptoms, like dyspnoea and recurrent pulmonary events, and it is triggered by certain risk factors, like smoking and working in an unfavourable environment.

Alpha 1-atitrypsin deficiency: from genetic routes to bedside

Rīga Stradiņš University, Dzirciema iela 16, Rīga, LV-1007, LATVIA

State Agency for Tuberculosis and Lung Diseases, p/n Cekule, Stopiņu novads, Rīgas raj., LV-2118, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

{"article-title":"Alpha 1-atitrypsin deficiency: from genetic routes to bedside"}

Alpha 1-antitrypsin (A1AT) deficiency is a one of the most common genetic disorders in Caucasians. It is characterised by low serum levels of A1AT and a high...

Alpha 1-atitrypsin deficiency: from genetic routes to bedside

Publié en ligne: 06 nov. 2009

Pages: 81 - 86

DOI: https://doi.org/10.2478/v10046-009-0027-4

Mots clés
alpha 1-antitrypsin deficiency, Z mutation

This content is open access.

Alpha 1-atitrypsin deficiency: from genetic routes to bedside

Publié en ligne: 06 nov. 2009

Pages: 81 - 86

DOI: https://doi.org/10.2478/v10046-009-0027-4

Mots clésalpha 1-antitrypsin deficiency, Z mutation

This content is open access.

Mots clés
alpha 1-antitrypsin deficiency, Z mutation