title: [Maintaining telomere length].
abstract: Telomeres protect the ends of chromosomes maintaining genome stability. The activity of telomerase enzyme, or alternatively the process of recombination, regulates the length of telomeres. In the absence of these mechanisms, excessive shortening of telomeres reach its critical level. Excessively shortened telomeres do not protect chromosome ends, the cell division cycle is stopped while the inactivity of replication process generates cellular senescence and cell death. On the other hand, critically shortened telomeres may promote chromosomal instability. These changes can lead to the development of carcinogenesis. In this process enzymatic activity of telomerase is reactivated. To maintain the protection of the chromosome ends, telomeres bind the stabilizing protein complex (shelterin). The presence of these protective proteins prevents undesirable DNA damage and initiates the repair system pathways. Molecular technologies enable the evaluation of telomere lengths, the analysis of telomerase expression and activity, and detection of mutations, polymorphic and epigenetic changes in telomere--shelterin--telomerase complex related genes. The purpose of research is to describe new mechanisms that affect the biology of telomere lengths, and to determine the impact on bone marrow failures, development of haematological malignancies, neurodegenerative diseases and others disorders associated with chromosomal instability. The model of modern therapies based on telomere biology explains the significance of the maintenance of telomere lengths in the process of cellular senescence and carcinogenesis.
authors.affiliation: Laboratorium Immunogenetyki Klinicznej i Farmakogenetyki Instytut Immunologii i Terapii Doświadczalnej PAN im. L. Hirszfelda we Wrocławiu.
authors.forename: Barbara
authors.initials: B
authors.lastname: Wysoczańska
mesh_terms: D000818:Animals; D002453:Cell Cycle / Q000235:genetics; D043171:Chromosomal Instability; D004249:DNA Damage; D019337:Hematologic Neoplasms / Q000235:genetics; D006801:Humans; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000235:genetics; D000089804:Shelterin Complex; D019098:Telomerase / Q000378:metabolism; D059505:Telomere Homeostasis / Q000502:physiology*; D034501:Telomere-Binding Proteins / Q000235:genetics* / Q000378:metabolism*
chemical_list: D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins; D019098:Telomerase