Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Diseases

External Link

Christian Mueller

2012

Alpha 1-Antitrypsin Deficiency

Articles 1 - 1 of 1

Full-Text Articles in Medicine and Health Sciences

In Vivo Post-Transcriptional Gene Silencing Of Alpha-1 Antitrypsin By Adeno-Associated Virus Vectors Expressing Sirna, Pedro Cruz, Christian Mueller, Travis Cossette, Alexandra Golant, Qiushi Tang, Stuart Beattie, Mark Brantly, Martha Campbell-Thompson, Keith Blomenkamp, Jeffrey Teckman, Terence Flotte Mar 2012

In Vivo Post-Transcriptional Gene Silencing Of Alpha-1 Antitrypsin By Adeno-Associated Virus Vectors Expressing Sirna, Pedro Cruz, Christian Mueller, Travis Cossette, Alexandra Golant, Qiushi Tang, Stuart Beattie, Mark Brantly, Martha Campbell-Thompson, Keith Blomenkamp, Jeffrey Teckman, Terence Flotte

Christian Mueller

alpha-1 Antitrypsin (AAT) deficiency is one of the most common genetic diseases in North America, with a carrier frequency of approximately 4% in the US population. Homozygosity for the most common mutation (Glu342Lys, PI(*)Z) leads to the synthesis of a mutant protein, which accumulates and polymerizes within hepatocytes rather than being efficiently secreted. This lack of secretion causes severe serum deficiency predisposing to chronic lung disease. Twelve to fifteen percent of patients with PI(*)ZZ also develop liver disease, which can be severe, even in infancy. This is thought to be due to toxic effects of the accumulated mutant Z-AAT within …