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Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evide...

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Autores principales: Anaya-Segura, Mónica Alejandra, Rangel-Villalobos, Héctor, Martínez-Cortés, Gabriela, Gómez-Díaz, Benjamín, Coral-Vázquez, Ramón Mauricio, Zamora-González, Edgar Oswaldo, García, Silvia, López-Hernández, Luz Berenice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000731/
https://www.ncbi.nlm.nih.gov/pubmed/27529242
http://dx.doi.org/10.3390/ijms17081334
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author Anaya-Segura, Mónica Alejandra
Rangel-Villalobos, Héctor
Martínez-Cortés, Gabriela
Gómez-Díaz, Benjamín
Coral-Vázquez, Ramón Mauricio
Zamora-González, Edgar Oswaldo
García, Silvia
López-Hernández, Luz Berenice
author_facet Anaya-Segura, Mónica Alejandra
Rangel-Villalobos, Héctor
Martínez-Cortés, Gabriela
Gómez-Díaz, Benjamín
Coral-Vázquez, Ramón Mauricio
Zamora-González, Edgar Oswaldo
García, Silvia
López-Hernández, Luz Berenice
author_sort Anaya-Segura, Mónica Alejandra
collection PubMed
description Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC), the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24) and carriers (n = 23) were compared by relative quantitation using real-time PCR (p < 0.05), which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a “liquid biopsy” for carrier detection and genetic counseling in DMD.
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spelling pubmed-50007312016-09-01 Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy Anaya-Segura, Mónica Alejandra Rangel-Villalobos, Héctor Martínez-Cortés, Gabriela Gómez-Díaz, Benjamín Coral-Vázquez, Ramón Mauricio Zamora-González, Edgar Oswaldo García, Silvia López-Hernández, Luz Berenice Int J Mol Sci Article Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers is of the utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation of creatine kinase levels (CK) allow tracking of the at-risk haplotype and evidence muscle damage, respectively. Such approaches are useful for carrier detection in cases of unknown mutations. The lack of informative markers and the inaccuracy of CK affect carrier detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays to amplify 10 loci within the DMD gene and estimated allele frequencies and the polymorphism information content among other parameters in 337 unrelated individuals from three Mexican populations. In addition, we tested the utility of the assays for carrier detection in three families. Moreover, given that serum levels of miR-206 discern between DMD patients and controls with a high area under the curve (AUC), the potential applicability for carrier detection was assessed. The serum levels of miR-206 of non-carriers (n = 24) and carriers (n = 23) were compared by relative quantitation using real-time PCR (p < 0.05), which resulted in an AUC = 0.80 in the Receiver Operating Characteristic curve analysis. In conclusion, miR-206 has potential as a “liquid biopsy” for carrier detection and genetic counseling in DMD. MDPI 2016-08-13 /pmc/articles/PMC5000731/ /pubmed/27529242 http://dx.doi.org/10.3390/ijms17081334 Text en © 2016 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC-BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Anaya-Segura, Mónica Alejandra
Rangel-Villalobos, Héctor
Martínez-Cortés, Gabriela
Gómez-Díaz, Benjamín
Coral-Vázquez, Ramón Mauricio
Zamora-González, Edgar Oswaldo
García, Silvia
López-Hernández, Luz Berenice
Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title_full Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title_fullStr Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title_full_unstemmed Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title_short Serum Levels of MicroRNA-206 and Novel Mini-STR Assays for Carrier Detection in Duchenne Muscular Dystrophy
title_sort serum levels of microrna-206 and novel mini-str assays for carrier detection in duchenne muscular dystrophy
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000731/
https://www.ncbi.nlm.nih.gov/pubmed/27529242
http://dx.doi.org/10.3390/ijms17081334
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