Alpha 1-atitrypsin deficiency: From genetic routes to bedside

Baiba Lace, Alvils Krams, Didzis Pilans, Astrida Krumiņa

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)81-86
Number of pages6
JournalProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
Issue number3
Publication statusPublished - 2009


  • Alpha 1-antitrypsin deficiency
  • Z mutation

Field of Science*

  • 1.6 Biological sciences
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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