Alpha-1 antitrypsin deficiency: What protects the one – and not the other?

As part of an international study, researchers at the Max Planck Institute of Biochemistry used spatial proteomics method called Deep Visual Proteomics to analyze liver tissue from German and Danish patients with Alpha-1 Antitrypsin Deficiency. Their findings explain why two-thirds of patients with the homozygous form of this genetic disorder never develop liver fibrosis, despite carrying the same mutation as those who do. This discovery, published in Nature, provides new opportunities for early detection and prevention strategies for this hereditary condition.

Quelle: IDW Informationsdienst Wissenschaft