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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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Items 101–128 of 128
Telomerase Mutations and Premature Ageing in Humans
Du, H., Bessler, M., & Mason, P. J. (2007) · Springer eBooks · doi:10.1007/978-3-540-73709-4_5 · Cited by 2
Self-citationCarcinome épidermoïde buccal chez le sujet jeune : présentation d’un cas
d’Elbée, J.-M., Ella, B., & Fricain, J. (2012) · Médecine Buccale Chirurgie Buccale · doi:10.1051/mbcb/2012042 · Cited by 2
Telomere Binding Proteins and Disease
Blasco, M. A. (2007) · Springer eBooks · doi:10.1007/978-3-540-73709-4_12 · Cited by 2
Senescence: Integrating Biology from Cradle to the Grave
Haussmann, M. F., & Treidel, L. A. (2014) · Integrative Organismal Biology · doi:10.1002/9781118398814.ch16 · Cited by 2
Extra-Telomeric Effects of Telomerase (hTERT) in Cell Death
Bellot, G. L., & Wang, Y. (2013) · InTech eBooks · doi:10.5772/48583 · Cited by 2
“…such as Dyskeratosis Congenital and aplastic anaemia results in impaired telomerase activity leading to major bone marrow failures and premature ageing syndromes (Calado et al., 2002; Calado et al., 2009; Mason et al., 2005; Mitchell et al., 1999; Shtessel and Ahmed, 2011; Vulliamy et al., 2002).”
BackgroundMcMilin, K. D., & Dasgupta, S. (2007) · Stem Cells and Development · doi:10.1089/scd.2006.0080 · Cited by 1
An investigation into eukaryotic pseudouridine synthases
King, R. D., & Lü, C. (2014) · Journal of Bioinformatics and Computational Biology · doi:10.1142/s0219720014500152 · Cited by 1
“The deletion of CBF5 is lethal, however, the molecular function CBF5 is similar to that of dyskerin.(17)”
BackgroundMethodInfluentialShwachman — Diamond Syndrome: Modern Genetic Aspects of a Ribosomapathy
Ipatova, M. G. (2020) · Doctor Ru · doi:10.31550/1727-2378-2020-19-10-33-36 · Cited by 1
Nath, A. R., & Natarajan, J. (2023) · Medicine in Omics · doi:10.1016/j.meomic.2023.100025 · Cited by 1
Telomere length dynamics in aging mice
Comartin, P. J. (2012) · Scholarship@Western (Western University) · Cited by 2
Human Skin Stem Cells, Aging, and Possible Antiaging Strategies
Tripathi, S. S., Singh, S., & Singh, A. K. (2019) · Springer eBooks · doi:10.1007/978-981-13-2541-0_3 · Cited by 1
Zinsser-Engman-Cole Syndrome Presenting as Partial Limbal Stem Cell Deficiency
Srirampur, A., Mansoori, T., & Rebbala, P. (2020) · Cureus · doi:10.7759/cureus.10933 · Cited by 1
“Telomeres play a central role in cell turnover and aging, and their length can directly affect the ability of stem cells to regenerate tissues [2].”
Background(2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-3435-3.50018-x · Cited by 1
Darbro, B. W. (2007) · doi:10.17077/etd.2qnj4kik · Cited by 1
“DC is an inherited condition in humans characterized by abnormalities in skin, nails, hair and bone marrow (Mason et al., 2005; Rubin, 2002).”
BackgroundRegulation of the Liver Cell Mass
Malek, N. P., Rudolph, K. L., & Diehl, A. M. (2007) · Wiley eBooks · doi:10.1002/9780470691861.ch2e · Cited by 1
Telomeres and Telomerase in Ageing and Cancer
Ouellette, M. M., & Choi, K. H. (2007) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0006067.pub2 · Cited by 1
Mehdipour, P., & Parsa, N. (2012) · Springer eBooks · doi:10.1007/978-94-007-4632-9_7
Telomerase: target for cancer treatment
Shay, J. W., & Wright, W. E. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139046947.038
Sénescence cellulaire et cancer: «Le pacte Faustien»
Gaudin, C. (2011) · Springer eBooks · doi:10.1007/978-2-8178-0142-1_3
Correlation between telomere maintenance and stemness of mesenchymal stem/stromal cells
(2016) · Telomere and Telomerase · doi:10.14800/tt.1184
Exploring biological risk factors of chronic obstructive pulmonary disease : old age and female sex
Mui, T. (2010) · cIRcle (University of British Columbia) · doi:10.14288/1.0070956
Une maladie méconnue due à un maintien défectueux des télomères
Henry, Y. A. L., Leblanc, T. M., Hoareau‐Aveilla, C., de Biologie, L., & Saint-Louis, H. (2008)
Naeim, F., Rao, P. N., & Grody, W. W. (2008) · Elsevier eBooks · doi:10.1016/b978-0-12-370607-2.00007-7
Telomeres and telomere dysfunctions
Dobre, E.-G., Dinescu, S., & Costache, M. (2018) · Reviews in Biological and Biomedical Sciences · doi:10.31178/rbbs.2019.2.1.3
Dyskératose congénitale et aplasie médullaire constitutionnelle
Mouzouri, N., Bazouti, S., Alouani, I., Zizi, N., & Dikhaye, S. (2019) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/j.annder.2019.01.013
Chemical and Pharmacological Modulation of Telomerase
Soares, J. (2019) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/fgzz-7e09
Antiaging: Wunsch und Realität
Kaufmann, R. (2007) · Fortschritte der praktischen Dermatologie und Venerologie · doi:10.1007/978-3-540-30515-6_22
“So findet sich bei der mit prämaturem Altern einhergehenden Dyskeratosis congenita eine Störung im Erhalt der zur Replikationsfähigkeit der DNA wichtigen Telomere [8] oder etwa bei der Progeria Hutchinson-Gilford Defekte im für die Zellkernmembranstabilität wichtigen Strukturprotein Lamin A [12].”
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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