6533b7ddfe1ef96bd1274743

RESEARCH PRODUCT

Telomere attrition in peripheral blood mononuclear cells of children with alpha-1 antitrypsin deficiency

subject

description

Background: Our research group have demonstrated that oxidative stress (OS) is involved in the pathophysiology of alpha-1 antitrypsin deficiency (AATD) (Escribano A. et al. Thorax 2015;70:82-3). In addition, many evidences have shown that OS accelerates telomere shortening in several lung pathologies. Short telomeres have been associated to higher emphysema risk in COPD patients. Rationale: Since AATD is characterised by chronic OS, we hypothesise that telomere shortening would be accelerated in AATD patients and would be associated with higher risk of developing lung disease. Aims: To assess telomere length (TL) in AATD patients and to study its association with AAT phenotypes. Methods: TL was prospectively measured in peripheral blood mononuclear cells (PBMC) of 54 children diagnosed with AATD and 19 control individuals. Patients were classified according to their AAT phenotype in three risk groups: low- (MS;SS), intermediate- (MZ; SZ) and high risk (ZZ) of developing lung disease. Results: PBMC isolated from AATD patients have significantly shorter TL than control individuals (p Conclusions: AATD patients show evidence of shorter TL compared to control individuals. An association between TL and risk of developing lung disease is observed indicating that TL is a promising biomarker for AATD disease progression.