Molecular pathology of alpha 1-antitrypsin deficiency and its significance to clinical medicine.

@article{Kalsheker1994MolecularPO,
  title={Molecular pathology of alpha 1-antitrypsin deficiency and its significance to clinical medicine.},
  author={Noor A. Kalsheker},
  journal={QJM : monthly journal of the Association of Physicians},
  year={1994},
  volume={87 11},
  pages={653-8}
}
alpha 1-Antitrypsin (AAT) deficiency is associated with predisposition to developing liver cirrhosis in early childhood, and chronic degenerative lung disease in early adult life. The probable molecular basis for the disease associations is known. One of the common variants, Z, has the propensity to form polymers, a phenomenon which is concentration- and temperature-dependent. This results in accumulation of the protein in hepatocytes, the predominant tissue source of AAT, and leads to cell… CONTINUE READING