A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy

BACKGROUND: Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomy...

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Autores principales: Biagi, Diogo G, Mill, José G, Mansur, Alfredo J, Krieger, José E, Pereira, Alexandre C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268099/
https://www.ncbi.nlm.nih.gov/pubmed/22236651
http://dx.doi.org/10.1186/1477-5751-11-4
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author Biagi, Diogo G
Mill, José G
Mansur, Alfredo J
Krieger, José E
Pereira, Alexandre C
author_facet Biagi, Diogo G
Mill, José G
Mansur, Alfredo J
Krieger, José E
Pereira, Alexandre C
author_sort Biagi, Diogo G
collection PubMed
description BACKGROUND: Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomyopathy. RESULTS: We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12.6). No missense variant was found. Five no-coding variations were found but not related to the disease. CONCLUSIONS: These data corroborate other studies suggesting that mutations in FKBP12 and FKBP12.6 genes are not commonly related to cardiac diseases.
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spelling pubmed-32680992012-01-30 A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy Biagi, Diogo G Mill, José G Mansur, Alfredo J Krieger, José E Pereira, Alexandre C J Negat Results Biomed Research BACKGROUND: Calstabins 1 and 2 bind to Ryanodine receptors regulating muscle excitation-contraction coupling. Mutations in Ryanodine receptors affecting their interaction with calstabins lead to different cardiac pathologies. Animal studies suggest the involvement of calstabins with dilated cardiomyopathy. RESULTS: We tested the hypothesis that calstabins mutations may cause dilated cardiomyopathy in humans screening 186 patients with idiopathic dilated cardiomyopathy for genetic alterations in calstabins 1 and 2 genes (FKBP12 and FKBP12.6). No missense variant was found. Five no-coding variations were found but not related to the disease. CONCLUSIONS: These data corroborate other studies suggesting that mutations in FKBP12 and FKBP12.6 genes are not commonly related to cardiac diseases. BioMed Central 2012-01-11 /pmc/articles/PMC3268099/ /pubmed/22236651 http://dx.doi.org/10.1186/1477-5751-11-4 Text en Copyright ©2012 Biagi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Biagi, Diogo G
Mill, José G
Mansur, Alfredo J
Krieger, José E
Pereira, Alexandre C
A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title_full A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title_fullStr A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title_full_unstemmed A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title_short A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
title_sort negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268099/
https://www.ncbi.nlm.nih.gov/pubmed/22236651
http://dx.doi.org/10.1186/1477-5751-11-4
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