| Abstrakt: |
Alpha 1 Antitrypsin Deficiency, a genetic condition that has become prominent in European societies over the last century, is now rare in medical diagnosis. This review explores SERPINA1 gene alternate transcripts related to AAT deficiency to increase awareness of AATD genetics and related medical conditions. While covering gene therapy for AAT deficiency related to liver disease, this review studies how AATD affects the endoplasmic reticulum in liver cells and how gene therapy can reduce ER stress in the hepatocytes. The Z mutation causes AATD and is common and severe. Z aggregates in hepatocyte endoplasmic reticulum, where Z-AAT is produced and released, can harm homozygous ZZ livers. Moreover, liver injury is rare in homozygous ZZ individuals, even with cirrhosis or hepatocellular carcinoma. AATD is being tested with AAV vectors, CRISPR/Cas9, and ER autophagy therapies. GAd vectors can avoid immune response, achieving the intended result. CRISPR/Cas9 can create AAT gene therapy using Ad vectors. The method may fix immunity, liver damage, and genes. ER autophagy can improve treatment for malignant hepatocyte cells. Innovative technology can develop AAT gene therapy. New technologies like capsid engineering, NHP gene-transfer vectors, genome editing, and emerging animal models can help develop the AAT gene-therapy approach into a useful technology. [ABSTRACT FROM AUTHOR] |
