Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis

Detalhes bibliográficos
Autor(a) principal: Feliciano, Luciana Maria [UNESP]
Data de Publicação: 2020
Outros Autores: Sávio, André Luiz Ventura, de Castro Marcondes, João Paulo, da Silva, Glenda Nicioli, Salvadori, Daisy Maria Fávero [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1007/s12031-019-01408-7
http://hdl.handle.net/11449/201318
Resumo: The etiology of multiple sclerosis (MS) is still not known, but the interaction of genetic, immunological, and environmental factors seem to be involved. This study aimed to investigate genetic alterations and the vitamin D status in patients with relapsing-remitting MS (RRMS) and secondary progressive MS (SPMS). A total of 53 patients (29 RRMS; 24 SPMS) and 25 healthy subjects were recruited to evaluate the micronucleated cell (MNC) frequency and nuclear abnormalities in the buccal mucosa, gene expression profiling in mononuclear cells, and plasmatic vitamin D concentration in the blood. Results showed a higher frequency of cells with karyorrhexis (SPMS) and lower frequencies of nuclear pyknosis (RRMS and SPMS) and karyolysis (SPMS) in patients with MS. Significant increase in the frequency of MNC was detected in the buccal mucosa of RRMS and SPMS patients. HIF1A, IL13, IL18, MYC, and TNF were differentially expressed in MS patients, and APP was overexpressed in cells of RRMS compared to SPMS patients. No relationship was observed between vitamin D level and the differentially expressed genes. In conclusion, the cytogenetic alterations in the buccal mucosa can be important indicators of genetic instability and degenerative processes in patients with MS. Furthermore, our data introduced novel biomarkers associated with the molecular pathogenesis of MS.
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spelling Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple SclerosisBiomarkersBuccal mucosaMicronucleated cellMultiple sclerosisVitamin DThe etiology of multiple sclerosis (MS) is still not known, but the interaction of genetic, immunological, and environmental factors seem to be involved. This study aimed to investigate genetic alterations and the vitamin D status in patients with relapsing-remitting MS (RRMS) and secondary progressive MS (SPMS). A total of 53 patients (29 RRMS; 24 SPMS) and 25 healthy subjects were recruited to evaluate the micronucleated cell (MNC) frequency and nuclear abnormalities in the buccal mucosa, gene expression profiling in mononuclear cells, and plasmatic vitamin D concentration in the blood. Results showed a higher frequency of cells with karyorrhexis (SPMS) and lower frequencies of nuclear pyknosis (RRMS and SPMS) and karyolysis (SPMS) in patients with MS. Significant increase in the frequency of MNC was detected in the buccal mucosa of RRMS and SPMS patients. HIF1A, IL13, IL18, MYC, and TNF were differentially expressed in MS patients, and APP was overexpressed in cells of RRMS compared to SPMS patients. No relationship was observed between vitamin D level and the differentially expressed genes. In conclusion, the cytogenetic alterations in the buccal mucosa can be important indicators of genetic instability and degenerative processes in patients with MS. Furthermore, our data introduced novel biomarkers associated with the molecular pathogenesis of MS.Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Faculty of Medicine UNESP–São Paulo State UniversityHealth Science Dept. UNINOVE–Nove de Julho UniversityCESMAC–University CenterFaculty of Pharmacy UFOP–Federal University of Ouro PretoFaculty of Medicine UNESP–São Paulo State UniversityCNPq: (CNPq - 471312/2012-6)Universidade Estadual Paulista (Unesp)UNINOVE–Nove de Julho UniversityCESMAC–University CenterUFOP–Federal University of Ouro PretoFeliciano, Luciana Maria [UNESP]Sávio, André Luiz Venturade Castro Marcondes, João Pauloda Silva, Glenda NicioliSalvadori, Daisy Maria Fávero [UNESP]2020-12-12T02:29:30Z2020-12-12T02:29:30Z2020-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article120-130http://dx.doi.org/10.1007/s12031-019-01408-7Journal of Molecular Neuroscience, v. 70, n. 1, p. 120-130, 2020.1559-11660895-8696http://hdl.handle.net/11449/20131810.1007/s12031-019-01408-72-s2.0-85074847167Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal of Molecular Neuroscienceinfo:eu-repo/semantics/openAccess2024-09-03T13:17:50Zoai:repositorio.unesp.br:11449/201318Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T13:17:50Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
title Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
spellingShingle Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
Feliciano, Luciana Maria [UNESP]
Biomarkers
Buccal mucosa
Micronucleated cell
Multiple sclerosis
Vitamin D
title_short Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
title_full Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
title_fullStr Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
title_full_unstemmed Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
title_sort Genetic Alterations in Patients with Two Clinical Phenotypes of Multiple Sclerosis
author Feliciano, Luciana Maria [UNESP]
author_facet Feliciano, Luciana Maria [UNESP]
Sávio, André Luiz Ventura
de Castro Marcondes, João Paulo
da Silva, Glenda Nicioli
Salvadori, Daisy Maria Fávero [UNESP]
author_role author
author2 Sávio, André Luiz Ventura
de Castro Marcondes, João Paulo
da Silva, Glenda Nicioli
Salvadori, Daisy Maria Fávero [UNESP]
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
UNINOVE–Nove de Julho University
CESMAC–University Center
UFOP–Federal University of Ouro Preto
dc.contributor.author.fl_str_mv Feliciano, Luciana Maria [UNESP]
Sávio, André Luiz Ventura
de Castro Marcondes, João Paulo
da Silva, Glenda Nicioli
Salvadori, Daisy Maria Fávero [UNESP]
dc.subject.por.fl_str_mv Biomarkers
Buccal mucosa
Micronucleated cell
Multiple sclerosis
Vitamin D
topic Biomarkers
Buccal mucosa
Micronucleated cell
Multiple sclerosis
Vitamin D
description The etiology of multiple sclerosis (MS) is still not known, but the interaction of genetic, immunological, and environmental factors seem to be involved. This study aimed to investigate genetic alterations and the vitamin D status in patients with relapsing-remitting MS (RRMS) and secondary progressive MS (SPMS). A total of 53 patients (29 RRMS; 24 SPMS) and 25 healthy subjects were recruited to evaluate the micronucleated cell (MNC) frequency and nuclear abnormalities in the buccal mucosa, gene expression profiling in mononuclear cells, and plasmatic vitamin D concentration in the blood. Results showed a higher frequency of cells with karyorrhexis (SPMS) and lower frequencies of nuclear pyknosis (RRMS and SPMS) and karyolysis (SPMS) in patients with MS. Significant increase in the frequency of MNC was detected in the buccal mucosa of RRMS and SPMS patients. HIF1A, IL13, IL18, MYC, and TNF were differentially expressed in MS patients, and APP was overexpressed in cells of RRMS compared to SPMS patients. No relationship was observed between vitamin D level and the differentially expressed genes. In conclusion, the cytogenetic alterations in the buccal mucosa can be important indicators of genetic instability and degenerative processes in patients with MS. Furthermore, our data introduced novel biomarkers associated with the molecular pathogenesis of MS.
publishDate 2020
dc.date.none.fl_str_mv 2020-12-12T02:29:30Z
2020-12-12T02:29:30Z
2020-01-01
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://dx.doi.org/10.1007/s12031-019-01408-7
Journal of Molecular Neuroscience, v. 70, n. 1, p. 120-130, 2020.
1559-1166
0895-8696
http://hdl.handle.net/11449/201318
10.1007/s12031-019-01408-7
2-s2.0-85074847167
url http://dx.doi.org/10.1007/s12031-019-01408-7
http://hdl.handle.net/11449/201318
identifier_str_mv Journal of Molecular Neuroscience, v. 70, n. 1, p. 120-130, 2020.
1559-1166
0895-8696
10.1007/s12031-019-01408-7
2-s2.0-85074847167
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Journal of Molecular Neuroscience
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 120-130
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv repositoriounesp@unesp.br
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