Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
- Autores
- Mayorga, Lía; Laurito, Sergio Roberto; Loos, Mariana; Eiroa, Hernán D.; de Pinho, Silvina; Lubieniecki, Fabiana; Arroyo, Hugo A.; Pereyra, Marcela F.; Kauffman, Marcelo Andres; Roque, Maria Soledad
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread. We report three Kearns Sayre Syndrome patients and one Chronic Progressive External Ophthalmoplegia adult,whose diagnostic mtDNA deletions were detected by MLPA using a very low amount of DNA. This managed to dilute the NUMT interference as well as enhance MLPAs efficiency. By this report, we conclude that when MLPA is performed upon a reduced amount of DNA, it can detect effectively mtDNA deletions. We propose MLPA as a possible first step method in the diagnosis of mt diseases.
Fil: Mayorga, Lía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina
Fil: Laurito, Sergio Roberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina
Fil: Loos, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Eiroa, Hernán D.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: de Pinho, Silvina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Lubieniecki, Fabiana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Arroyo, Hugo A.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina
Fil: Pereyra, Marcela F.. Hospital H. Notti; Argentina
Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos ; Argentina
Fil: Roque, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina - Materia
-
Chronic Progressive External Ophthalmoplegia
Copy Numbre Changes
Diagnosis
Kearns Sayre Syndrome
Mitochondrial Disease
Numts - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/41304
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Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe AmplificationMayorga, LíaLaurito, Sergio RobertoLoos, MarianaEiroa, Hernán D.de Pinho, SilvinaLubieniecki, FabianaArroyo, Hugo A.Pereyra, Marcela F.Kauffman, Marcelo AndresRoque, Maria SoledadChronic Progressive External OphthalmoplegiaCopy Numbre ChangesDiagnosisKearns Sayre SyndromeMitochondrial DiseaseNumtshttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread. We report three Kearns Sayre Syndrome patients and one Chronic Progressive External Ophthalmoplegia adult,whose diagnostic mtDNA deletions were detected by MLPA using a very low amount of DNA. This managed to dilute the NUMT interference as well as enhance MLPAs efficiency. By this report, we conclude that when MLPA is performed upon a reduced amount of DNA, it can detect effectively mtDNA deletions. We propose MLPA as a possible first step method in the diagnosis of mt diseases.Fil: Mayorga, Lía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Laurito, Sergio Roberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Loos, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Eiroa, Hernán D.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: de Pinho, Silvina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Lubieniecki, Fabiana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Arroyo, Hugo A.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; ArgentinaFil: Pereyra, Marcela F.. Hospital H. Notti; ArgentinaFil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos ; ArgentinaFil: Roque, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaInforma Healthcare2015-06info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/41304Mayorga, Lía; Laurito, Sergio Roberto; Loos, Mariana; Eiroa, Hernán D.; de Pinho, Silvina; et al.; Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification; Informa Healthcare; Mitochondrial Dna; 27; 4; 6-2015; 2864-28671940-1736CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3109/19401736.2015.1053132info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/19401736.2015.1053132info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:42:45Zoai:ri.conicet.gov.ar:11336/41304instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:42:45.757CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
title |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
spellingShingle |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification Mayorga, Lía Chronic Progressive External Ophthalmoplegia Copy Numbre Changes Diagnosis Kearns Sayre Syndrome Mitochondrial Disease Numts |
title_short |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
title_full |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
title_fullStr |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
title_full_unstemmed |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
title_sort |
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification |
dc.creator.none.fl_str_mv |
Mayorga, Lía Laurito, Sergio Roberto Loos, Mariana Eiroa, Hernán D. de Pinho, Silvina Lubieniecki, Fabiana Arroyo, Hugo A. Pereyra, Marcela F. Kauffman, Marcelo Andres Roque, Maria Soledad |
author |
Mayorga, Lía |
author_facet |
Mayorga, Lía Laurito, Sergio Roberto Loos, Mariana Eiroa, Hernán D. de Pinho, Silvina Lubieniecki, Fabiana Arroyo, Hugo A. Pereyra, Marcela F. Kauffman, Marcelo Andres Roque, Maria Soledad |
author_role |
author |
author2 |
Laurito, Sergio Roberto Loos, Mariana Eiroa, Hernán D. de Pinho, Silvina Lubieniecki, Fabiana Arroyo, Hugo A. Pereyra, Marcela F. Kauffman, Marcelo Andres Roque, Maria Soledad |
author2_role |
author author author author author author author author author |
dc.subject.none.fl_str_mv |
Chronic Progressive External Ophthalmoplegia Copy Numbre Changes Diagnosis Kearns Sayre Syndrome Mitochondrial Disease Numts |
topic |
Chronic Progressive External Ophthalmoplegia Copy Numbre Changes Diagnosis Kearns Sayre Syndrome Mitochondrial Disease Numts |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread. We report three Kearns Sayre Syndrome patients and one Chronic Progressive External Ophthalmoplegia adult,whose diagnostic mtDNA deletions were detected by MLPA using a very low amount of DNA. This managed to dilute the NUMT interference as well as enhance MLPAs efficiency. By this report, we conclude that when MLPA is performed upon a reduced amount of DNA, it can detect effectively mtDNA deletions. We propose MLPA as a possible first step method in the diagnosis of mt diseases. Fil: Mayorga, Lía. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina Fil: Laurito, Sergio Roberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina Fil: Loos, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina Fil: Eiroa, Hernán D.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina Fil: de Pinho, Silvina. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina Fil: Lubieniecki, Fabiana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina Fil: Arroyo, Hugo A.. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría ; Argentina Fil: Pereyra, Marcela F.. Hospital H. Notti; Argentina Fil: Kauffman, Marcelo Andres. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos ; Argentina Fil: Roque, Maria Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Cienicas Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; Argentina |
description |
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, and its duplication in the nuclear genome as pseudogenes (NUMTs), make it vulnerable to diagnostic misleading interpretations. Multiplex Ligation-dependent Probe Amplification (MLPA) is used to detect copy number variations in nuclear genes and its application on mtDNA has not been widely spread. We report three Kearns Sayre Syndrome patients and one Chronic Progressive External Ophthalmoplegia adult,whose diagnostic mtDNA deletions were detected by MLPA using a very low amount of DNA. This managed to dilute the NUMT interference as well as enhance MLPAs efficiency. By this report, we conclude that when MLPA is performed upon a reduced amount of DNA, it can detect effectively mtDNA deletions. We propose MLPA as a possible first step method in the diagnosis of mt diseases. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-06 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/41304 Mayorga, Lía; Laurito, Sergio Roberto; Loos, Mariana; Eiroa, Hernán D.; de Pinho, Silvina; et al.; Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification; Informa Healthcare; Mitochondrial Dna; 27; 4; 6-2015; 2864-2867 1940-1736 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/41304 |
identifier_str_mv |
Mayorga, Lía; Laurito, Sergio Roberto; Loos, Mariana; Eiroa, Hernán D.; de Pinho, Silvina; et al.; Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification; Informa Healthcare; Mitochondrial Dna; 27; 4; 6-2015; 2864-2867 1940-1736 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.3109/19401736.2015.1053132 info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/19401736.2015.1053132 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
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application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Informa Healthcare |
publisher.none.fl_str_mv |
Informa Healthcare |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |