Alpha‐1‐antitrypsin mutant Z protein content in individual hepatocytes correlates with cell death in a mouse model

Douglas Lindblad, Keith Blomenkamp, Jeffrey Teckman – 20 September 2007 – Alpha‐1‐antitrypsin (a1AT) deficiency is caused by homozygosity for the a1AT mutant Z gene and occurs in 1 in 2000 births. The Z mutation confers an abnormal conformation on the protein, resulting in an accumulation within the endoplasmic reticulum of hepatocytes rather than appropriate secretion. The accumulation of the mutant protein is strikingly heterogeneous within the liver.

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