Hepatic-targeted RNA interference provides persistent knockdown of alpha-1 antitrypsin levels in ZZ patients

Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant disease which predisposes to early-onset emphysema and liver cirrhosis [1]. Estimates of the number of adult AATD patients exhibiting clinically significant liver disease have varied from 10% (defined by transaminase abnormalities) [2,3] to 18% in a U.K. cohort assessed by ultrasound (+/- biopsy) [4] to approximately 35% in those with an Ishak fibrosis score ≥ 2 assessed histologically after liver biopsy [5]. A Swedish autopsy series from AATD patients with the PiZZ genotype found liver disease to be present in the majority of patients, albeit unrecognized in many cases during life [6].

Source: Journal of Hepatology - March 20, 2018 Category: Gastroenterology Authors: Alice M. Turner, Jan Stolk, Robert Bals, Jason Lickliter, James Hamilton, Dawn R. Christianson, Bruce D. Given, Jonathan G. Burdon, Rohit Loomba, James K. Stoller, Jeffery H. Teckman Source Type: research