Diagnóstico y terapias de enfermedades con acortamiento telomérico: Disqueratosis Congénita y Fibrosis Pulmonar.

Diagnosis and therapies in diseases with telomere shortening: Dyskeratosis Congenita and Pulmonary Fibrosis.

September 20-21. 2018

There is a group of diseases whose genetic bases are germinal mutations in genes coding for proteins involved in telomere replication and structure that induce telomere shortening and are collectively named telomeropathies. Telomerase is the enzyme that repairs telomeres preventing them from shortening in every cell division and is essential to maintain the viability of stem cells of organism tissues. Some telomeropathies present with bone marrow failure as is dyskeratosis congenita and aplastic anemia and others with pulmonary failure as pulmonary fibrosis or hepatic fibrosis, among others. A common feature of these diseases is that stem cells from affected tissues are not able to maintain tissue renewal. This associates with premature aging of the affected tissue and higher sensitivity or incapability to repair exogenous damage. Depending on the gene variant and the gene affected these patients can develop one or other symptoms affecting tissues with high cell turnover such as bone marrow, lung alveolar epithelia, gastrointestinal track, etc. The severity of the disease and the patient's quality of life is also depending on the genetic alteration. At this point there is no curative treatment for these diseases including dyskeratosis congenita and pulmonary fibrosis. In this Meeting we will analyze current basic research, the molecular bases of the diseases and how these mutations can affect the prognosis and the clinical development of the disease. We will also approach the current therapies used in the clinical setting and others in the preclinical and experimental phases. Telomere shortening is also present in other pathologies termed secondary telomeropathies (ataxia telangiectasia, Bloom and Werner syndromes, etc). It is also a factor associated with different diseases such as cardiovascular and neurological disorders, diabetes, emotional stress as well as most of pathologies associated with aging.

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