Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/2891 |
Resumo: | Mitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause. |
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Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient PopulationAdultDNA, MitochondrialFemaleHeterozygoteHumansMELAS SyndromeMaleMiddle AgedMutationPhenotypeStrokeYoung AdultCHLC UCVMitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause.Springer VerlagRepositório do Centro Hospitalar Universitário de Lisboa Central, EPETatlisumak, TPutaala, JInnilä, MEnzinger, CMetso, TMCurtze, Svon Sarnowski, BAmaral-Silva, AJungehulsing, GJTanislav, CThijs, VRolfs, ANorrving, BFazekas, FSuomalainen, AKolodny, EH2018-02-06T16:17:03Z2016-022016-02-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2891engJ Neurol. 2016 Feb;263(2):257-26210.1007/s00415-015-7969-zinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:40:11Zoai:repositorio.chlc.min-saude.pt:10400.17/2891Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:13.228059Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
title |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
spellingShingle |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population Tatlisumak, T Adult DNA, Mitochondrial Female Heterozygote Humans MELAS Syndrome Male Middle Aged Mutation Phenotype Stroke Young Adult CHLC UCV |
title_short |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
title_full |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
title_fullStr |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
title_full_unstemmed |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
title_sort |
Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population |
author |
Tatlisumak, T |
author_facet |
Tatlisumak, T Putaala, J Innilä, M Enzinger, C Metso, TM Curtze, S von Sarnowski, B Amaral-Silva, A Jungehulsing, GJ Tanislav, C Thijs, V Rolfs, A Norrving, B Fazekas, F Suomalainen, A Kolodny, EH |
author_role |
author |
author2 |
Putaala, J Innilä, M Enzinger, C Metso, TM Curtze, S von Sarnowski, B Amaral-Silva, A Jungehulsing, GJ Tanislav, C Thijs, V Rolfs, A Norrving, B Fazekas, F Suomalainen, A Kolodny, EH |
author2_role |
author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Tatlisumak, T Putaala, J Innilä, M Enzinger, C Metso, TM Curtze, S von Sarnowski, B Amaral-Silva, A Jungehulsing, GJ Tanislav, C Thijs, V Rolfs, A Norrving, B Fazekas, F Suomalainen, A Kolodny, EH |
dc.subject.por.fl_str_mv |
Adult DNA, Mitochondrial Female Heterozygote Humans MELAS Syndrome Male Middle Aged Mutation Phenotype Stroke Young Adult CHLC UCV |
topic |
Adult DNA, Mitochondrial Female Heterozygote Humans MELAS Syndrome Male Middle Aged Mutation Phenotype Stroke Young Adult CHLC UCV |
description |
Mitochondrial diseases, predominantly mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), may occasionally underlie or coincide with ischemic stroke (IS) in young and middle-aged individuals. We searched for undiagnosed patients with MELAS in a target subpopulation of unselected young IS patients enrolled in the Stroke in Young Fabry Patients study (sifap1). Among the 3291 IS patients aged 18-55 years recruited to the sifap1 study at 47 centers across 14 European countries, we identified potential MELAS patients with the following phenotypic features: (a) diagnosed cardiomyopathy or (b) presence of two of the three following findings: migraine, short stature (≤165 cm for males; ≤155 cm for females), and diabetes. Identified patients' blood samples underwent analysis of the common MELAS mutation, m.3243A>G in the MTTL1 gene of mitochondrial DNA. Clinical and cerebral MRI features of the mutation carriers were reviewed. We analyzed blood samples of 238 patients (177 with cardiomyopathy) leading to identification of four previously unrecognized MELAS main mutation carrier-patients. Their clinical and MRI characteristics were within the expectation for common IS patients except for severe hearing loss in one patient and hyperintensity of the pulvinar thalami on T1-weighted MRI in another one. Genetic testing for the m.3243A>G MELAS mutation in young patients with IS based on phenotypes suggestive of mitochondrial disease identifies previously unrecognized carriers of MELAS main mutation, but does not prove MELAS as the putative cause. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-02 2016-02-01T00:00:00Z 2018-02-06T16:17:03Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/2891 |
url |
http://hdl.handle.net/10400.17/2891 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Neurol. 2016 Feb;263(2):257-262 10.1007/s00415-015-7969-z |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Springer Verlag |
publisher.none.fl_str_mv |
Springer Verlag |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799131298701246464 |