MELAS: clinical features, muscle biopsy and molecular genetics

Detalhes bibliográficos
Autor(a) principal: Lorenzoni,Paulo José
Data de Publicação: 2009
Outros Autores: Scola,Rosana H., Kay,Cláudia S. Kamoi, Arndt,Raquel C., Freund,Aline A., Bruck,Isac, Santos,Mara Lúcia S.F., Werneck,Lineu C.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400018
Resumo: OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.
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spelling MELAS: clinical features, muscle biopsy and molecular geneticsMELASmitochondrial myopathiesbiopsymitochondrial DNAgeneticsOBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.Academia Brasileira de Neurologia - ABNEURO2009-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400018Arquivos de Neuro-Psiquiatria v.67 n.3a 2009reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2009000400018info:eu-repo/semantics/openAccessLorenzoni,Paulo JoséScola,Rosana H.Kay,Cláudia S. KamoiArndt,Raquel C.Freund,Aline A.Bruck,IsacSantos,Mara Lúcia S.F.Werneck,Lineu C.eng2009-08-25T00:00:00Zoai:scielo:S0004-282X2009000400018Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2009-08-25T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv MELAS: clinical features, muscle biopsy and molecular genetics
title MELAS: clinical features, muscle biopsy and molecular genetics
spellingShingle MELAS: clinical features, muscle biopsy and molecular genetics
Lorenzoni,Paulo José
MELAS
mitochondrial myopathies
biopsy
mitochondrial DNA
genetics
title_short MELAS: clinical features, muscle biopsy and molecular genetics
title_full MELAS: clinical features, muscle biopsy and molecular genetics
title_fullStr MELAS: clinical features, muscle biopsy and molecular genetics
title_full_unstemmed MELAS: clinical features, muscle biopsy and molecular genetics
title_sort MELAS: clinical features, muscle biopsy and molecular genetics
author Lorenzoni,Paulo José
author_facet Lorenzoni,Paulo José
Scola,Rosana H.
Kay,Cláudia S. Kamoi
Arndt,Raquel C.
Freund,Aline A.
Bruck,Isac
Santos,Mara Lúcia S.F.
Werneck,Lineu C.
author_role author
author2 Scola,Rosana H.
Kay,Cláudia S. Kamoi
Arndt,Raquel C.
Freund,Aline A.
Bruck,Isac
Santos,Mara Lúcia S.F.
Werneck,Lineu C.
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Lorenzoni,Paulo José
Scola,Rosana H.
Kay,Cláudia S. Kamoi
Arndt,Raquel C.
Freund,Aline A.
Bruck,Isac
Santos,Mara Lúcia S.F.
Werneck,Lineu C.
dc.subject.por.fl_str_mv MELAS
mitochondrial myopathies
biopsy
mitochondrial DNA
genetics
topic MELAS
mitochondrial myopathies
biopsy
mitochondrial DNA
genetics
description OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.
publishDate 2009
dc.date.none.fl_str_mv 2009-09-01
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=S0004-282X2009000400018
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400018
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2009000400018
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 Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.67 n.3a 2009
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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