Association between circulating alpha-1 antitrypsin polymers and lung and liver disease

Alpha-1 antitrypsin deficiency (AATD) is considered one of the most common genetic diseases and is characterised by the misfolding and polymerisation of the alpha-1 antitrypsin (AAT) protein within hepatocytes. The relevance of circulating polymers (CP) of AAT in the pathogenesis of lung and liver d...

Descripción completa

Detalles Bibliográficos
Autores: Núñez, Alexa|||0000-0003-4067-0466, Belmonte, Irene|||0000-0002-8675-8343, Miranda, Elena, Barrecheguren, Miriam|||0000-0002-6041-1499, Farago, Georgina, Loeb, Eduardo, Pons Delgado, Mònica|||0000-0002-0985-3320, Rodríguez Frías, Francisco|||0000-0002-9128-7013, Gabriel-Medina, Pablo|||0000-0003-3079-6364, Rodríguez, Esther|||0000-0001-8572-5198, Genescà Ferrer, Joan|||0000-0002-0831-8422, Miravitlles, Marc|||0000-0002-9850-9520, Esquinas, Cristina|||0000-0001-5568-257X
Tipo de recurso: artículo
Fecha de publicación:2021
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:dnet:uabarcelona_::f52a3c12a97f9d539cdf25ed8d6247e8
Acceso en línea:https://ddd.uab.cat/record/327654
https://dx.doi.org/urn:doi:10.1186/s12931-021-01842-5
Access Level:acceso abierto
Palabra clave:Alpha-1 antitrypsin deficiency
Circulating polymers
Emphysema
Liver disease
Descripción
Sumario:Alpha-1 antitrypsin deficiency (AATD) is considered one of the most common genetic diseases and is characterised by the misfolding and polymerisation of the alpha-1 antitrypsin (AAT) protein within hepatocytes. The relevance of circulating polymers (CP) of AAT in the pathogenesis of lung and liver disease is not completely understood. Therefore, the main objective of our study was to determine whether there is an association between the levels of CP of AAT and the severity of lung and liver disease. This was a cross-sectional study in patients with different phenotypes of AATD and controls. To quantify CP, a sandwich ELISA was performed using the 2C1 monoclonal antibody against AAT polymers. Sociodemographic data, clinical characteristics, and liver and lung parameters were collected. A cohort of 70 patients was recruited: 32 Pi*ZZ (11 on augmentation therapy); 29 Z-heterozygous; 9 with other genotypes. CP were compared with a control group of 47 individuals (35 Pi*MM and 12 Pi*MS). ZZ patients had the highest concentrations of CP (p.

Similares en LA Referencia