The the Higher Council for Scientific Research (CSIC) and a pharmaceutical company studied the application of a test to measure telomeres in patients with idiopathic pulmonary fibrosis. Telomeric shortening is associated with a worse prognosis. The CSIC test allows customizing the treatment of pulmonary fibrosis, a rare respiratory disease, of unknown origin and with poor prognosis, which affects about 8,000 people in Spain.
Telomeres are repetitions of a DNA sequence at the end of chromosomes, which function is to protect the genetic material and are referred as a biological clock for aging. In each round of cell division these repetitions are shortened. Therefore, the progressive shortening of telomeres is a physiological process directly related to cell aging.
In collaboration with the pharmaceutical company Boehringer Ingelheim, the team of researchers studied the application of this test in 230 patients with the aim of making it accessible to doctors and patients in the future.
According to Peter Ploeger, general director of Boehringer Ingelheim Spain: “We can better predict the evolution of the disease, prevent possible complications associated with transplantation, offer the patient the benefits of a personalized medicine and detect it in relatives of patients.”
The test to determine the telomeric length is performed from a sample of buccal cells, which collection is simple.
“With this sample we extract the DNA and evaluate the telomeric length of each patient in relation to that presented by healthy individuals of the same age. The data are referred to the specialist, indicating the cases in which there is a shortening associated with fibrosis,” explains Rosario Perona, coordinator of the Telomeropathies Service of the Alberto Sols Biomedical Research Institute.
“This test is a useful personalized test so that the pulmonologist can estimate if the disease could progress rapidly,” adds Perona, also a member of the Center for Biomedical Research in the Network of Rare Diseases (CIBERER).
Although the origin of idiopathic pulmonary fibrosis is still being investigated, it is known to be a pathology related to aging. The accelerated shortening of telomeres is one of the mechanisms underlying this relationship. In addition to being a risk factor for developing the disease, it is associated with other systemic effects and with a worse prognosis.
The origin of the pathology
The pathogenic basis of pulmonary fibrosis is an alteration in the repair mechanism that is activated when damage to the alveolar epithelium occurs. By losing its repair capacity, lung tissue cannot regenerate and fibrotic tissue without respiratory functionality invades the alveolar space.
“It can be of unknown origin and is called idiopathic pulmonary fibrosis. When at least two direct members of a family have it, the pathology is called familial,” explains María Molina, an expert at Bellvitge University Hospital and clinical manager of this project.
“Although pulmonary fibrosis is a very heterogeneous disease that may be due to various genetic and environmental causes, in some cases mutations in telomerase protein complex genes that contribute to telomeric shortening and cell aging have been described,” Perona details that.
This shortening has been described in 25% of patients with idiopathic pulmonary fibrosis and in more than 5% with familial pulmonary fibrosis, and “is associated with a worse prognosis and the need for specific treatment for patients in terms of management.”