The investigators found that MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. had significantly higher liver enzymes and evidence of liver cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation than non-carriers. A possible mechanism for this observation was offered by David Lomas, MD, PhD, from the University of London, U.K. He reported that the MZ protein can form polymers by showing that a single copy of the Z allele is sufficient to form polymers within liver cells and may act as a co-factor in driving liver disease in MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick..
Alpha-1-To-One, Winter 2018 – Alpha-1 Foundation
There are strong arguments to consider heterozygous A1AT deficiency as an important co-factor in the aetiology of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. liver disease. Studies have shown that A1AT heterozygosity can be considered a modifier for hepatitis C virus, end-stage liver disease, cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation and hepatocellular carcinoma. The accumulation of A1AT in the hepatocytes occurs more profoundly in a diseased liver, and as a consequence it affects the natural course of the liver disease.
The Netherlands Journal of Medicine