Cited by 194Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model OrganismsNuclear Structure and Function

Telomere shortening in human diseases

Kong, Chiou Mee, Lee, Xiao Wen, Wang, Xueying·2013·The FEBS Journal

Abstract

The discovery of telomeres dates back to the early 20th century. In humans, telomeres are heterochromatic structures with tandem DNA repeats of 5'-TTAGGG-3' at the chromosomal ends. Telomere length varies greatly among species and ranges from 10 to 15 kb in humans. With each cell division, telomeres shorten progressively because of the 'end-replication problem'. Short or dysfunctional telomeres are often recognized as DNA DSBs, triggering cell-cycle arrest and result in cellular senescence or apoptotic cell death. Therefore, telomere shortening serves as an important tumor-suppressive mechanism by limiting cellular proliferative capacity by regulating senescence checkpoint activation. Although telomeres serve as a mitotic clock to cells, they also confer capping on chromosomes, with help from telomere-associated proteins. Over the past decades, many studies of telomere biology have demonstrated that telomeres and telomere-associated proteins are implicated in human genetic diseases. In addition, it has become more apparent that accelerated telomere erosion is associated with a myriad of metabolic and inflammatory diseases. Moreover, critically short or unprotected telomeres are likely to form telomeric fusions, leading to genomic instability, the cornerstone for carcinogenesis. In light of these, this minireview summarizes studies on telomeres and telomere-associated proteins in human diseases. Elucidating the roles of telomeres involved in the mechanisms underlying pathogenesis of these diseases may open up new possibilities for novel molecular targets as well as provide important diagnostic and therapeutic implications.

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Crossref · 10.1111/febs.12326

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  • Telomeres and telomere-associated proteins play an important role in the aging process and accelerated telomere erosion is associated with metabolic and inflammatory diseases associated with aging.

    “Studies investigating telomere biology have demonstrated that telomeres and telomere-associated proteins play an important role in the aging process and that accelerated telomere erosion is associated with metabolic and inflammatory diseases associated with aging [42]”

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Authors
Kong, C. M., Lee, X. W., & Wang, X.
Affiliations
National University of Singapore (SG)
Corresponding author
Wang, Xueying
Venue
The FEBS Journal
Publisher
Wiley
Published
2013-06-24
Volume
280
Issue
14
Pages
3180-3193
ISSN
  • 1742-464X (ISSN-L)
  • 1742-4658
OpenAlex
W2016037742
Cited by
194
References
140
Citations by year
2026: 4 · 2025: 3 · 2024: 16 · 2023: 17 · 2022: 18 · 2021: 15 · 2020: 16 · 2019: 10 · 2018: 20 · 2017: 11 · 2016: 20 · 2015: 21 · 2014: 18 · 2013: 5
FWCI
2.35
Type
journal article
Language
en
Open access
closed
Locations
  • FEBS Journal (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
Keywords
telomere shortening, telomeres, telomere-associated proteins, cellular senescence, apoptosis, DNA double-strand breaks, tumor suppression, metabolic disorders, inflammatory diseases, telomeric fusions, genomic instability, carcinogenesis, telomere length
MeSH terms
Anemia, Aplastic, Animals, Humans, Metabolic Diseases, Neoplasms, Dyskeratosis Congenita, DNA Repair-Deficiency Disorders, Idiopathic Pulmonary Fibrosis, Telomere Shortening

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