Why biopsies will come up with intracellular accumulations

Reference no: EM133496218

Assignment:

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A1AT deficiency (with worst mutation ZZ) has accumulations in the liver upon biopsy. Protein alpha 1 antitrypsin becomes malformed in mutations, leaving the proteins unable to move. Because the proteins are incapable of moving, this causes intracellular accumulations of proteins in the liver. There will be lower levels of protein in the blood compared to the liver due to build up and being unable to transfer from liver to blood. Build up of protein will leave damage of the liver, which is why biopsies will come up with intracellular accumulations. Build up of malformed A1AT would happen in the endoplasmic reticulum, as this is the area where proteins are transported.

Reference no: EM133496218

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