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What is the genetic alteration that affects the disease?

The deficiency of alpha-1 AT is an inherited disease due to the presence of a defective gene on chromosome 14. A gene is that portion of the DNA of the chromosomes located in the nucleus of cells that encodes a particular protein synthesis.

Have been described about 70 different variants of alpha-1 AT. In laboratory tests, a normal variant of alpha-1 AT is given the name of variant M. The two major abnormal variants are called S and Z variants These variants S and Z correspond to molecules of alpha-1 AT low quality, low-antiprotease activity, determining a functional deficit of alpha-1 AT. Each person receives two chromosomes 14 (one father and one from the mother), a normal person is qualified Pimm. Pi means protease inhibitor (protease inhibitor).

Some people have 2 of these abnormal genes, pizza or one PiSS, PiZS. They are known as homozygous and have the disease. Other people have an abnormal gene and one normal gene, eg: PIMS or PiMZ. They are known as heterozygotes, and without the disease but are carriers of the same.

The genes encoding the alpha-1 AT are co-dominant, that is, each gene is responsible for producing 50% of the total alpha-1 AT. A defective gene, the type of PiZ, only produces 10% of the amount that produces a normal gene, the type PiM.

People with genotype PiZZ have only 15-20% of blood levels of alpha-1 AT in relation to normal people, which causes severe illness. People with genotype PiMZ often have levels of alpha-1 AT around 60% of normal values ??(50% of the M gene and 10% of the Z gene), which usually is sufficient to prevent disease. People with genotype PiSS have a less severe involvement, with levels of alpha-1 AT around 60-70% of normal. Pulmonary complications may occur but are rare liver lesions.

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