Frequency of MELAS Main Mutation in a Phenotype-Targeted Young Ischemic Stroke Patient Population

Detalhes bibliográficos
Autor(a) principal: Tatlisumak, T
Data de Publicação: 2016
Outros Autores: 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
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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spelling 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
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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