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Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling
Ataxia-telangiectasia mutated kinase (ATM) is a serine/threonine kinase. Mutations in the ATM gene cause a rare autosomal multisystemic disease known as Ataxia-telangiectasia (AT). Individuals with mutations in both copies of the ATM gene suffer from increased susceptibility to ionizing radiation, p...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690556/ https://www.ncbi.nlm.nih.gov/pubmed/29152614 |
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author | Thrasher, Patsy Singh, Mahipal Singh, Krishna |
author_facet | Thrasher, Patsy Singh, Mahipal Singh, Krishna |
author_sort | Thrasher, Patsy |
collection | PubMed |
description | Ataxia-telangiectasia mutated kinase (ATM) is a serine/threonine kinase. Mutations in the ATM gene cause a rare autosomal multisystemic disease known as Ataxia-telangiectasia (AT). Individuals with mutations in both copies of the ATM gene suffer from increased susceptibility to ionizing radiation, predisposition to cancer, insulin resistance, immune deficiency, and premature aging. Patients with one mutated allele make-up ~1.4 to 2% of the general population. These individuals are spared from most of the symptoms of the disease. However, they are predisposed to developing cancer or ischemic heart disease, and die 7–8 years earlier than the non-carriers. DNA double-strand breaks activate ATM, and active ATM is known to phosphorylate an extensive array of proteins involved in cell cycle arrest, DNA repair, and apoptosis. The importance of ATM in the regulation of DNA damage response signaling is fairly well-established. This review summarizes the role of ATM in the heart, specifically in cardiac remodeling following β-adrenergic receptor stimulation and myocardial infarction. |
format | Online Article Text |
id | pubmed-5690556 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
record_format | MEDLINE/PubMed |
spelling | pubmed-56905562017-11-16 Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling Thrasher, Patsy Singh, Mahipal Singh, Krishna J Rare Dis Res Treat Article Ataxia-telangiectasia mutated kinase (ATM) is a serine/threonine kinase. Mutations in the ATM gene cause a rare autosomal multisystemic disease known as Ataxia-telangiectasia (AT). Individuals with mutations in both copies of the ATM gene suffer from increased susceptibility to ionizing radiation, predisposition to cancer, insulin resistance, immune deficiency, and premature aging. Patients with one mutated allele make-up ~1.4 to 2% of the general population. These individuals are spared from most of the symptoms of the disease. However, they are predisposed to developing cancer or ischemic heart disease, and die 7–8 years earlier than the non-carriers. DNA double-strand breaks activate ATM, and active ATM is known to phosphorylate an extensive array of proteins involved in cell cycle arrest, DNA repair, and apoptosis. The importance of ATM in the regulation of DNA damage response signaling is fairly well-established. This review summarizes the role of ATM in the heart, specifically in cardiac remodeling following β-adrenergic receptor stimulation and myocardial infarction. 2016-12-16 2017 /pmc/articles/PMC5690556/ /pubmed/29152614 Text en http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution 4.0 International License. |
spellingShingle | Article Thrasher, Patsy Singh, Mahipal Singh, Krishna Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title | Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title_full | Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title_fullStr | Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title_full_unstemmed | Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title_short | Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling |
title_sort | ataxia-telangiectasia mutated kinase: role in myocardial remodeling |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690556/ https://www.ncbi.nlm.nih.gov/pubmed/29152614 |
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