Telomere biology disorders

Abstract Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potentia...

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Autores principales:	Michelle L. W. Kam, Trang T. T. Nguyen, Joanne Y. Y. Ngeow
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/129e4d7b11e0489b9366758787214a63
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spelling	oai:doaj.org-article:129e4d7b11e0489b9366758787214a632021-12-02T14:49:12ZTelomere biology disorders10.1038/s41525-021-00198-52056-7944https://doaj.org/article/129e4d7b11e0489b9366758787214a632021-05-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00198-5https://doaj.org/toc/2056-7944Abstract Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognised and underdiagnosed. There is no gold standard for measuring telomere length and not all TBD-related mutations have been identified. There is no specific cure and the only treatment is organ transplantation, which has poor outcomes. This review summarises the current literature and discusses gaps in understanding and areas of need in managing TBD.Michelle L. W. KamTrang T. T. NguyenJoanne Y. Y. NgeowNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-13 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Michelle L. W. Kam Trang T. T. Nguyen Joanne Y. Y. Ngeow Telomere biology disorders
description	Abstract Telomere biology disorders (TBD) are a heterogeneous group of diseases arising from germline mutations affecting genes involved in telomere maintenance. Telomeres are DNA-protein structures at chromosome ends that maintain chromosome stability; their length affects cell replicative potential and senescence. A constellation of bone marrow failure, pulmonary fibrosis, liver cirrhosis and premature greying is suggestive, however incomplete penetrance results in highly variable manifestations, with idiopathic pulmonary fibrosis as the most common presentation. Currently, the true extent of TBD burden is unknown as there is no established diagnostic criteria and the disorder often is unrecognised and underdiagnosed. There is no gold standard for measuring telomere length and not all TBD-related mutations have been identified. There is no specific cure and the only treatment is organ transplantation, which has poor outcomes. This review summarises the current literature and discusses gaps in understanding and areas of need in managing TBD.
format	article
author	Michelle L. W. Kam Trang T. T. Nguyen Joanne Y. Y. Ngeow
author_facet	Michelle L. W. Kam Trang T. T. Nguyen Joanne Y. Y. Ngeow
author_sort	Michelle L. W. Kam
title	Telomere biology disorders
title_short	Telomere biology disorders
title_full	Telomere biology disorders
title_fullStr	Telomere biology disorders
title_full_unstemmed	Telomere biology disorders
title_sort	telomere biology disorders
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/129e4d7b11e0489b9366758787214a63
work_keys_str_mv	AT michellelwkam telomerebiologydisorders AT trangttnguyen telomerebiologydisorders AT joanneyyngeow telomerebiologydisorders
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Telomere biology disorders

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