Dr. Silvia Castillo

Circulating miRNAs as potential prognostic biomarkers in alpha-1 antitrypsin deficiency. A functional approach.


Alpha-1 antitrypsin deficiency (AATD) is a hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and liver disease in children and adults. In humans, AATD is a relatively common but highly under-diagnosed condition. Moreover, it shows a high degree of variability and neither plasma AAT levels nor phenotype are sufficient to identify those patients who will develop severe lung or liver disease. Therefore, new non-invasive prognostic biomarkers are needed to allow rapid molecular risk stratification and outcome prediction.

MicroRNA (miRNA) are small non-coding RNA molecules than regulate gene expression and are involved in the pathogenesis of several lung (such as cystic fibrosis, lung cancer, pulmonary fibrosis, asthma and COPD) and liver (cirrhosis and hepatocellular carcinoma) diseases. Recent studies using tissue samples have demonstrated that unique miRNA expression profiles exist in these diseases and are currently being investigated as biomarkers for both diagnosis and prognosis in disease.

Since miRNAs are relatively stable in biofluids, they are major candidates for use as noninvasive biomarkers in molecular diagnostics of disease and other clinical conditions such as organ damage as well as pre-clinical toxicology and drug safety assessments.


Aim 1. To investigate miRNAs as prognostic tools in AATD patients

Aim 2. In addition, we will investigate the role of miRNAs in the pathogenesis of AATD- and non-AATDrelated COPD/liver disease associated with oxidative stress

Curriculum vitae Dr. Silvia Castillo

Dr. Silvia Castillo obtained her MD from the University Autónoma Madrid, School of Medicine and later specialized in pediatrics at the Hospital Clínico Universitario Valencia. She also obtained a PhD In AATD research at the University of Valencia

She is currently working as a Pediatric and Child Pneumology Specialist at the University Clinical Hospital in Valencia. Her focus is on the study on the alpha 1 antitrypsin deficit to know the physiopathological mechanisms and to evaluate new therapeutic strategies, especially at early ages where the disease still does not produce symptoms, in order to avoid the development of the disease later in life.