Telomeres and telomere dysfunctions

Elena Georgiana Dobre, Sorina Dinescu, Marieta Costache    Published online: 22 February 2019

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The length of telomeres is an important determinant of cell viability and phenotype. In stem cells, telomere shortening affects their self-renewal potential and compromises the regeneration of a variety of tissues. Telomeropathies, also known as telomeres diseases or telomeres syndromes, are a suggestive example in this context. These diseases are caused by mutations in genes coding for proteins involved in telomere maintenance and repair. Telomere attrition is also a source of genomic instability. Cells that display frayed telomeres and dysfunctional tumor suppressor genes, often activate telomere maintenance mechanisms, telomerase or alternative lengthening of telomeres, and become immortal. Carcinogenesis is initiated more easily in stem cells, because they exhibit low levels of telomerase. Thus, in response to mutations induced by telomere shortening and environmental exposure, stem cells can enhance telomerase activity to stabilize their genome, gaining unlimited proliferation capacity at the same time. In this paper, we reviewed the literature on telomere biology in order to understand the molecular underpinnings of telomere maintenance and its involvement in human diseases, especially age-associated diseases and cancer.


Keywords telomere shortening, telomeropathies, genomic instability, telomere maintenance mechanisms,  telomerase, alternative lengthening of telomeres, stem cells, carcinogenesis


Corresponding author: Sorina Dinescu, E-mail:

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