Alpha 1-Antitrypsin deficiency in liver explants in a Mexican cohort: A unique cohort to assess the role of heterozygous genotypes in liver disease

Authors : Karatas, E. ; Bouchecareilh, M.

Affiliations : Univ Bordeaux, CNRS, INSERM, BaRITOn, U1053, Bat 1A 2eme Etage 146, Rue Leo Saignat, F-F33000 Bordeaux, France.

Publication: Clinics and Research in Hepatology and Gastroenterology; 2021; 45; June 2021

Abstract: Alpha 1-Antitrypsin (AAT) deficiency (AATD) is an under-recognized and undiagnosed inherited genetic disorder thatinduces chronic liver disease [1,2]. AATD is caused by muta-tions on SERPINA1 gene (name of the gene that encodes AATprotein) and to date over 100 variants have been identified. SERPINA1 alleles nomenclature are based on electrophoreticmigration of the protein variants and were also named withthe prefix PI for Protease Inhibitor serving as an alias for thegene. Thus, using this unconventional nomenclature, nor-mal AAT or wild-type allele refers to person with a normalProteinase Inhibitor (PI) genotype MM or PI M (Medium migra-tion) while the two most common deficient AAT alleles are:PI S (Slow migration) and PI Z (Very Slow migration) (…).