AATD RESEARCH
AATD research projects are constantly evolving, which is why it is carried out by a group of medical professionals and scientists who work to find a cure
Constantly evolving
We are a group of professionals involved in the investigation of Alpha 1 Antitrypsin Deficiency
We bet on Research
Basic Research
Our mission is to determine serum alpha-1 antitrypsin concentrations by nephelometry. In addition, we can identify the genotype of the various genetic variants in dried blood drop, oral mucosa smear or whole blood, using sequencing techniques or real-time PCR.
We participate in network research studies with the Carlos III Health Institute (ISCIII), the Valencia Clinical Research Institute (INCLIVA) and Progénika Biopharma (GRIFOLS Group).
Clinical Research
The Centers of Excellence in DAAT of Granada, Seville, Galicia, Madrid and Catalonia, we develop clinical studies in network, which evaluate the impact of DAAT on the quality of life of patients and their families, as well as the effects of treatment with AAT via endovenous in the evolution of this disease.
01.
Implication of microRNAs in the regulation of the serpin-1 antitrypsin gene and its role in alpha-1 antitrypsin deficiency.
Principal Investigator: Francisco Casas Maldonado.
Multicenter study developed at the Carlos III Health Institute of Madrid (ISCIII).
DAAT is an inherited disorder caused by mutations in the SERPINA1 gene.
This disease shows a high degree of variability in clinical manifestations, suggesting that there are unknown genetic factors that may influence the severity of the disease.
Given that microRNAs (miRNAs) are involved in the pathogenesis of several human diseases, it was investigated whether the SERPINA1 gene could be regulated by miRNAs.
The objectives of the study are:
- Identify the miRNAs involved in the regulation of the AAT gene.
- To investigate the role of miRNAs as biomarkers in patients with AATD by performing expression profiles in blood and serum.
02.
Study of the effect of hypoxia on degranulation, on cytokine production and on the oxidative profile of neutrophils in patients with alpha-1 antitrypsin deficiency (DAAT).
Principal Investigator: Amparo Escribano Montaner.
Research Collaborator: Francisco Casas Maldonado.
Multicenter study developed at Valencia Health Research Institute (INCLIVA).
The number of neutrophils in the lungs of patients with AATAD is significantly higher than in healthy individuals, which could contribute to increased proteolytic activity and inflammation-hypoxia, and the development of COPD observed in some from the patients. The objective of the study is to determine if hypoxia induces the activation of neutrophils in patients with AATD and if treatment with intravenous AAT reduces said activation.
The objectives of the study are:
Define if there are differences in conditions of normoxia vs. hypoxia in degranulation, production of pro-inflammatory cytokines and reactive oxygen species (ROS) of neutrophils from healthy volunteers, patients with AATD and patients with COPD not associated with AATD
Within patients with AATAD, evaluate the differences between the different phenotypes.
To evaluate the effect of treatment with intravenous AAT therapy on neutrophil degranulation, pro-inflammatory cytokine production and ROS.
03.
Analysis of oxidative stress parameters, mitochondrial function, telomere length and profile of circulating miRNAs in patients with alpha-1 antitrypsin deficiency. Prognostic implications.
Investigador Principal: Francisco Dasi Fernández
Research Collaborator: Francisco Casas Maldonado.
Multicenter study developed at Valencia Health Research Institute (INCLIVA).
Oxidative stress (OE) has been shown to be a factor that contributes to the development of liver and lung damage in animal models of DAAT. Previous studies have shown that EO is involved in DAAT and is associated with the risk of developing lung and / or liver disease.
The objectives of the study are:
To characterize the reactive oxygen species (ROS) that are generated in the cells of the immune system of patients with AATD by flow cytometry, and to evaluate their mitochondrial function as a possible source of ROS.
Determine telomere length using qPCR in patients with AATAD and study its relationship with the severity of lung and / or liver disease.
Examine the expression profile using Affymetrix microarrays of circulating miRNAs in patients with AATAD and establish their prognostic value.
