Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Inborn Errors of Metabolism and Screening |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100302 |
Resumo: | Abstract Mitochondrial diseases are multisystemic disorders characterized by an impairment of the mitochondrial respiratory chain. Diagnosis requires an approach that involves a high index of suspicion, molecular techniques and a careful selection of the tissue to be studied. Our goal was to develop and implement local strategies for diagnosing mitochondrial disorders, by standardizing procedures of molecular biology and nucleic acid sequencing. A prospective, analytical, observational study was conducted in a cohort of, a total of 82 patients with suspected mitochondrial disorder who were treated at our hospital between May 2008 and June 2019. We developed molecular diagnostic tools that included classical monogenic techniques and Next Generation Sequencing. We characterized the neurological and extra neurological manifestations noted in our cohort. Following the proposed algorithm, we obtained a molecular diagnostic performance of 54%, identifying mutations in 44 patients. mtDNA mutations were identified in 34 patients. Structural rearrangements in mitochondrial genome were found in 3 and 7 in nuclear genes, respectively. Our results confirm the utility of the proposed algorithm and the molecular tools used, as evidenced by a high diagnostic performance. This is of great value to a more efficient and comprehensive medical care of patients and families affected by mitochondrial disorders. |
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Journal of Inborn Errors of Metabolism and Screening |
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Molecular Diagnosis in an Argentinean Mitochondrial Disorders CohortMitochondrial diseasesMolecular diagnosticAlgorithmAbstract Mitochondrial diseases are multisystemic disorders characterized by an impairment of the mitochondrial respiratory chain. Diagnosis requires an approach that involves a high index of suspicion, molecular techniques and a careful selection of the tissue to be studied. Our goal was to develop and implement local strategies for diagnosing mitochondrial disorders, by standardizing procedures of molecular biology and nucleic acid sequencing. A prospective, analytical, observational study was conducted in a cohort of, a total of 82 patients with suspected mitochondrial disorder who were treated at our hospital between May 2008 and June 2019. We developed molecular diagnostic tools that included classical monogenic techniques and Next Generation Sequencing. We characterized the neurological and extra neurological manifestations noted in our cohort. Following the proposed algorithm, we obtained a molecular diagnostic performance of 54%, identifying mutations in 44 patients. mtDNA mutations were identified in 34 patients. Structural rearrangements in mitochondrial genome were found in 3 and 7 in nuclear genes, respectively. Our results confirm the utility of the proposed algorithm and the molecular tools used, as evidenced by a high diagnostic performance. This is of great value to a more efficient and comprehensive medical care of patients and families affected by mitochondrial disorders.Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100302Journal of Inborn Errors of Metabolism and Screening v.9 2021reponame:Journal of Inborn Errors of Metabolism and Screeninginstname:Instituto Genética para Todos (IGPT)instacron:IGPT10.1590/2326-4594-jiems-2020-0020info:eu-repo/semantics/openAccessMartinez,NerinaRosales,JulietaMedina,NancyPerez-Maturo,JosefinaSalinas,ValeriaZavala,LuciaVega,PatriciaRodríguez-Quiroga,SergioMorón,Dolores González-Kauffman,Marcelo A.eng2021-03-08T00:00:00Zoai:scielo:S2326-45942021000100302Revistahttp://jiems-journal.org/ONGhttps://old.scielo.br/oai/scielo-oai.phpjiems@jiems-journal.org||rgiugliani@hcpa.edu.br2326-45942326-4594opendoar:2021-03-08T00:00Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT)false |
dc.title.none.fl_str_mv |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
title |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
spellingShingle |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort Martinez,Nerina Mitochondrial diseases Molecular diagnostic Algorithm |
title_short |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
title_full |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
title_fullStr |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
title_full_unstemmed |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
title_sort |
Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort |
author |
Martinez,Nerina |
author_facet |
Martinez,Nerina Rosales,Julieta Medina,Nancy Perez-Maturo,Josefina Salinas,Valeria Zavala,Lucia Vega,Patricia Rodríguez-Quiroga,Sergio Morón,Dolores González- Kauffman,Marcelo A. |
author_role |
author |
author2 |
Rosales,Julieta Medina,Nancy Perez-Maturo,Josefina Salinas,Valeria Zavala,Lucia Vega,Patricia Rodríguez-Quiroga,Sergio Morón,Dolores González- Kauffman,Marcelo A. |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Martinez,Nerina Rosales,Julieta Medina,Nancy Perez-Maturo,Josefina Salinas,Valeria Zavala,Lucia Vega,Patricia Rodríguez-Quiroga,Sergio Morón,Dolores González- Kauffman,Marcelo A. |
dc.subject.por.fl_str_mv |
Mitochondrial diseases Molecular diagnostic Algorithm |
topic |
Mitochondrial diseases Molecular diagnostic Algorithm |
description |
Abstract Mitochondrial diseases are multisystemic disorders characterized by an impairment of the mitochondrial respiratory chain. Diagnosis requires an approach that involves a high index of suspicion, molecular techniques and a careful selection of the tissue to be studied. Our goal was to develop and implement local strategies for diagnosing mitochondrial disorders, by standardizing procedures of molecular biology and nucleic acid sequencing. A prospective, analytical, observational study was conducted in a cohort of, a total of 82 patients with suspected mitochondrial disorder who were treated at our hospital between May 2008 and June 2019. We developed molecular diagnostic tools that included classical monogenic techniques and Next Generation Sequencing. We characterized the neurological and extra neurological manifestations noted in our cohort. Following the proposed algorithm, we obtained a molecular diagnostic performance of 54%, identifying mutations in 44 patients. mtDNA mutations were identified in 34 patients. Structural rearrangements in mitochondrial genome were found in 3 and 7 in nuclear genes, respectively. Our results confirm the utility of the proposed algorithm and the molecular tools used, as evidenced by a high diagnostic performance. This is of great value to a more efficient and comprehensive medical care of patients and families affected by mitochondrial disorders. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100302 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100302 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/2326-4594-jiems-2020-0020 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
publisher.none.fl_str_mv |
Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) |
dc.source.none.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening v.9 2021 reponame:Journal of Inborn Errors of Metabolism and Screening instname:Instituto Genética para Todos (IGPT) instacron:IGPT |
instname_str |
Instituto Genética para Todos (IGPT) |
instacron_str |
IGPT |
institution |
IGPT |
reponame_str |
Journal of Inborn Errors of Metabolism and Screening |
collection |
Journal of Inborn Errors of Metabolism and Screening |
repository.name.fl_str_mv |
Journal of Inborn Errors of Metabolism and Screening - Instituto Genética para Todos (IGPT) |
repository.mail.fl_str_mv |
jiems@jiems-journal.org||rgiugliani@hcpa.edu.br |
_version_ |
1754732520238219264 |