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Dyskeratosis Congenita - A Disease of Dysfunctional Telomere Maintenance
Abstract
Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome associated with abnormalities of the skin, fingernails, and tongue. Other clinical manifestations may include epiphora, lung fibrosis, liver cirrhosis, osteoporosis, and a predisposition to develop a variety of malignancies. The clinical picture often resembles that of a premature aging syndrome and tissues affected are those with a high cell turnover. DC has been linked to mutations in at least four distinct genes, three of which have been identified. The product of these genes, dyskerin, the telomerase RNA (TERC), and the catalytic unit of telomerase (TERT) are part of a ribonucleoprotein complex, the telomerase enzyme, that is essential for the elongation and maintenance of chromosome ends or telomeres. All patients with DC have excessively short telomeres, indicating that the underlying defect in these individuals is an inability to maintain the telomeres. The purpose of the current review is to highlight recent insights into the molecular pathogenesis of DC. We discuss the impact these findings have on our current understanding of telomere function and maintenance, and on the diagnosis, management, and treatment of patients with conditions caused by dysfunctional telomeres.
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“By contrast, telomere shortening is accelerated in several human premature ageing syndromes, and patients with dyskeratosis congenita and aplastic anaemia show decreased telomerase activity and shortened telomeres owing to mutations in the TERC and TERT telomerase genes.”
From The common biology of cancer and ageing (2007) · cites this paper as [64]
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How Shelterin Protects Mammalian Telomeres
Palm, W., & de Lange, T. (2008) · Annual Review of Genetics · doi:10.1146/annurev.genet.41.110306.130350 · Cited by 1,802
“These POT1b−/− mTerc+/− show a set of phenotypes that are reminiscent of Dyskeratosis congenita (82a), a disease ascribed to insufficient telomere maintenance [reviewed in (53, 132)].”
BackgroundAubert, G., & Lansdorp, P. M. (2008) · Physiological Reviews · doi:10.1152/physrev.00026.2007 · Cited by 1,188
“Short telomeres are a risk factor in the progression of ulcerative colitis to colon carcinoma (161) and in nonalcoholic fatty liver disease (157), liver cirrhosis (138), and pulmonary fibrosis (6).”
BackgroundTelomeres: protecting chromosomes against genome instability
O’Sullivan, R. J., & Karlseder, J. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2848 · Cited by 1,043
“Dyskeratosis congenita is an inherited disease that is marked by bone marrow failure, abnormal skin pigmentation, nail dystrophy and leucoplaki”
BackgroundThe common biology of cancer and ageing
Finkel, T., Serrano, M., & Blasco, M. A. (2007) · Nature · doi:10.1038/nature05985 · Cited by 988
The epigenetic regulation of mammalian telomeres
Blasco, M. A. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2047 · Cited by 600
“, and from some cases of dyskeratosis congenita and Aplastic anaemia , which show premature loss of tissue renewal associated with decreased telomerase activity and short telomere”
Background
Metadata
- Authors
- Mason, P., Wilson, D., & Bessler, M.
- Affiliations
- Washington University in St. Louis (US)
- ORCID
- Wilson, D.
- Venue
- Current Molecular Medicine
- Publisher
- Bentham Science Publishers Ltd.
- Published
- 2005-03-01
- Volume
- 5
- Issue
- 2
- Pages
- 159-170
- ISSN
- 1566-5240 (ISSN-L)
- OpenAlex
- W2110736059
- Cited by
- 129
- References
- 0
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 4 · 2020: 2 · 2019: 4 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 1 · 2014: 9 · 2013: 5 · 2012: 9
- FWCI
- 10.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Current Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (R01CA105312, CA105312-01)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- dyskeratosis congenita, telomere maintenance, telomerase, dyskerin, telomerase reverse transcriptase (TERT), bone marrow failure, premature aging, genetic disorders, molecular pathogenesis, telomere dysfunction, cancer susceptibility, pulmonary fibrosis, liver cirrhosis
- MeSH terms
- Humans, Mutation, Neoplasms, Genetic Therapy, Telomere, Telomerase, Dyskeratosis Congenita, Genetic Predisposition to Disease, Chromosomes, Human, X
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