State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change

Detalhes bibliográficos
Autor(a) principal: Furtado, Gabriel Vasata
Data de Publicação: 2019
Outros Autores: Oliveira, Camila Maria de, Bolzan, Gabriela, Saute, Jonas Alex Morales, Pereira, Maria Luiza Saraiva, Jardim, Laura Bannach
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/199625
Resumo: Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against clinical scale, and responsiveness to change. While some biological fluid compounds and neurophysiological parameters showed poor responsiveness, others seemed to be good candidates. Some potential candidates that are waiting for responsiveness studies were serum levels of neuron specific enolase, vestibulo-ocular reflex and video-oculography. Candidates evaluated by RNA and microRNA expression levels need further studies to improve their measurements. Data on peripheral levels of Beclin-1 and DNAJB1 are promising but still incipient. We conclude that several potential candidates should follow onto validating studies for surrogate state biomarkers of SCA3/MJD.
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spelling Furtado, Gabriel VasataOliveira, Camila Maria deBolzan, GabrielaSaute, Jonas Alex MoralesPereira, Maria Luiza SaraivaJardim, Laura Bannach2019-09-20T03:48:50Z20191415-4757http://hdl.handle.net/10183/199625001099984Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against clinical scale, and responsiveness to change. While some biological fluid compounds and neurophysiological parameters showed poor responsiveness, others seemed to be good candidates. Some potential candidates that are waiting for responsiveness studies were serum levels of neuron specific enolase, vestibulo-ocular reflex and video-oculography. Candidates evaluated by RNA and microRNA expression levels need further studies to improve their measurements. Data on peripheral levels of Beclin-1 and DNAJB1 are promising but still incipient. We conclude that several potential candidates should follow onto validating studies for surrogate state biomarkers of SCA3/MJD.application/pdfengGenetics and molecular biology. Ribeirão Preto. Vol. 42, no. 1, suppl. (June 2019), p. 238-251Doença de Machado-JosephBiomarcadoresBiomarkersNeurophysiologyMachado-Joseph diseaseSpinocerebellar ataxia type 3State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to changeinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/otherinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001099984.pdf.txt001099984.pdf.txtExtracted Texttext/plain59668http://www.lume.ufrgs.br/bitstream/10183/199625/2/001099984.pdf.txtfa2686772ebc0502aa2bdddd700ce8cdMD52ORIGINAL001099984.pdfTexto completo (inglês)application/pdf652771http://www.lume.ufrgs.br/bitstream/10183/199625/1/001099984.pdf0b55f7900f1e5d319b10effaa01ca8f8MD5110183/1996252023-11-15 04:27:23.639051oai:www.lume.ufrgs.br:10183/199625Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2023-11-15T06:27:23Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
title State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
spellingShingle State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
Furtado, Gabriel Vasata
Doença de Machado-Joseph
Biomarcadores
Biomarkers
Neurophysiology
Machado-Joseph disease
Spinocerebellar ataxia type 3
title_short State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
title_full State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
title_fullStr State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
title_full_unstemmed State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
title_sort State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change
author Furtado, Gabriel Vasata
author_facet Furtado, Gabriel Vasata
Oliveira, Camila Maria de
Bolzan, Gabriela
Saute, Jonas Alex Morales
Pereira, Maria Luiza Saraiva
Jardim, Laura Bannach
author_role author
author2 Oliveira, Camila Maria de
Bolzan, Gabriela
Saute, Jonas Alex Morales
Pereira, Maria Luiza Saraiva
Jardim, Laura Bannach
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Furtado, Gabriel Vasata
Oliveira, Camila Maria de
Bolzan, Gabriela
Saute, Jonas Alex Morales
Pereira, Maria Luiza Saraiva
Jardim, Laura Bannach
dc.subject.por.fl_str_mv Doença de Machado-Joseph
Biomarcadores
topic Doença de Machado-Joseph
Biomarcadores
Biomarkers
Neurophysiology
Machado-Joseph disease
Spinocerebellar ataxia type 3
dc.subject.eng.fl_str_mv Biomarkers
Neurophysiology
Machado-Joseph disease
Spinocerebellar ataxia type 3
description Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major drawback for their use as main outcomes in clinical trials, given the rarity and slow progression of the disease. This limitation might be overcome by finding good surrogate markers. We present here a review of studies on peripheral and neurophysiological markers in SCA3/MJD that can be candidates for state biomarkers. Data on markers already studied were summarized, giving emphasis on validation against clinical scale, and responsiveness to change. While some biological fluid compounds and neurophysiological parameters showed poor responsiveness, others seemed to be good candidates. Some potential candidates that are waiting for responsiveness studies were serum levels of neuron specific enolase, vestibulo-ocular reflex and video-oculography. Candidates evaluated by RNA and microRNA expression levels need further studies to improve their measurements. Data on peripheral levels of Beclin-1 and DNAJB1 are promising but still incipient. We conclude that several potential candidates should follow onto validating studies for surrogate state biomarkers of SCA3/MJD.
publishDate 2019
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dc.relation.ispartof.pt_BR.fl_str_mv Genetics and molecular biology. Ribeirão Preto. Vol. 42, no. 1, suppl. (June 2019), p. 238-251
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