Telomere-Related Gene Mutations and Lung Diseases: Pulmonary Fibrosis, Emphysema and Lung Cancer
Leandro Sastre 1, Maria Molina-Molina 2, Rosario Perona 1
1 Instituto de Investigaciones Biomédicas, Centro Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Centro de Investigación Biomédica en Red Enfermedades Respiratorias (CIBERES), Instituto de Investigación Hospital Universitario la Paz (IDIPaz); 2 Interstitial Lung Disease Unit, Respiratory Department, University Hospital of Bellvitge, Barcelona; Biomedical Research Institute of Bellvitge (IDIBELL), University of Barcelona, Barcelona; CIBER of Respiratory Diseases (CIBERES), Madrid, Spain
*Correspondence: Leandro Sastre, Email not available
Abstract
In this review, we will approach the role of the regulation of telomere length and telomerase activity in different lung diseases. Telomeres are nucleo-protein structures located at the end of chromosomes that protect them from degradation. In the absence of telomerase activity, telomeres are shortened after each round of deoxyribonucleic acid (DNA) replication. When a critical size is reached, there is an induction in cell apoptosis or senescence. Telomere replication is also involved in the acquisition of the unlimited proliferative capacity that characterises tumour cells. Several diseases of lung tissue are associated either with a deficit or overactivation of telomerase activity. Idiopathic pulmonary fibrosis is associated with germinal mutations in telomerase-genes resulting in premature senescence of lung tissue accelerating the onset of the disease. Somatic mutations or polymorphisms in telomere reverse transcriptase (TERT) promoter have also been associated with upregulation of telomerase activity and lung cancer.
