Alpha-1 Antitrypsin Deficiency

Methods Mol Biol. 2024:2750:1-7. doi: 10.1007/978-1-0716-3605-3_1.

Abstract

Alpha-1 antitrypsin (AAT) deficiency is a common monogenic disorder in which there is a strong founder effect of a single missense mutation in SERPINA1, the gene encoding this major circulating serum anti-protease that is normally expressed primarily in hepatocytes. These features make AAT deficiency particularly attractive as a target for therapeutic gene editing using a wide variety of approaches.

Keywords: Alpha-1 antitrypsin; CRISPR–Cas9; Emphysema; Gene editing; Gene therapy; Liver; Lung; Vector.

MeSH terms

  • Endopeptidases
  • Founder Effect
  • Gene Editing
  • Hepatocytes
  • Humans
  • alpha 1-Antitrypsin Deficiency* / genetics

Substances

  • Endopeptidases