{"id":6251,"date":"2025-04-17T16:09:54","date_gmt":"2025-04-17T14:09:54","guid":{"rendered":"https:\/\/alpha1-deutschland.org\/?p=6251"},"modified":"2025-04-17T16:10:59","modified_gmt":"2025-04-17T14:10:59","slug":"heterozygoter-merkmalstraeger","status":"publish","type":"post","link":"https:\/\/alpha1-deutschland.org\/en\/heterozygoter-merkmalstraeger","title":{"rendered":"Heterozygous carrier of trait PiMZ"},"content":{"rendered":"
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Author<\/h4><\/span><\/span>\n<\/div>\n
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Dr. Heinz Steveling, as published in Alpha1 Journal 1\/2024<\/a>.<\/p>\n<\/div>\n\n\n\n

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Basic information<\/h2>\n

First, let's briefly explain what the term "heterozygous carrier" means. Put simply, every person has two sets of chromosomes, which contain the genes carrying hereditary information. Each gene is inherited once from the mother and once from the father. In a heterozygous mutation, a change in a gene is present on only one of the two inherited chromosomes. The other chromosome, however, still contains the original and unaltered gene variant.<\/p>\n

Alpha-1 antitrypsin deficiency (AATD) is caused by a defect in a gene on chromosome 14. The gene can either be normal (M gene) or have various mutations. Most people with AATD have a Z mutation.<\/p>\n<\/div>\n\n\n\n

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PiMZ<\/h2>\n

Heterozygous carriers, so-called PiMZ, inherit the healthy M gene from one parent and the Z mutation from the other. The mutation reduces the activity of alpha-1-antitrypsin to approximately 60 % compared to normal.<\/p>\n

For a long time, it was believed that the heterogeneous carriers PiMZ, with only one mutated Z gene, were not significantly more at risk than carriers PiMM with two normal M genes \u2013 especially since deviations regarding
\nThe development of the lungs was hardly noticeable compared to PiMM.<\/p>\n

However, due to the significantly improved diagnostic possibilities, such as lung function diagnostics, ergospirometry and computed tomography, it is evident that PiMZ patients also require greater medical attention.<\/p>\n

In particular, comparative studies using high-resolution computed tomography document, for example, changes in the lungs in the sense of pulmonary emphysema.<\/p>\n

Changes associated with alpha-1 antitrypsin deficiency, which can affect both the lungs and the liver, are significantly less severe in PiMZ than in PiZZ gene defects, where mutations are present on both chromosomes. Based on current scientific knowledge, the recommendations for heterozygous PiMZ carriers are as follows:<\/p>\n