Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Understanding and Future Therapy

  title={Liver Disease in Alpha-1 Antitrypsin Deficiency: Current Understanding and Future Therapy},
  author={J. Teckman},
  journal={COPD: Journal of Chronic Obstructive Pulmonary Disease},
  pages={35 - 43}
  • J. Teckman
  • Published 2013
  • Biology, Medicine
  • COPD: Journal of Chronic Obstructive Pulmonary Disease
  • Abstract Alpha-1 antitrypsin Deficiency (AATD) is a common, but under recognized metabolic genetic disease. Although many mutations in the alpha-1 antitrypsin (AAT) gene are described, the Z variant is the allele overwhelmingly associated with liver disease. PI*ZZ homozygotes occur in approximately 1 in 2,000-5,000 births in North American and European populations. The AAT protein is synthesized in large quantities by the liver, and then secreted into serum. Its physiologic function is to… CONTINUE READING
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