Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch)
ilustraciones (algunas a color), diagramas
- Autores:
-
Barrera-Torres, Herman Fredy
- Tipo de recurso:
- Fecha de publicación:
- 2024
- Institución:
- Universidad Nacional de Colombia
- Repositorio:
- Universidad Nacional de Colombia
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.unal.edu.co:unal/86512
- Palabra clave:
- 610 - Medicina y salud
570 - Biología::572 - Bioquímica
610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría
Metilación de ADN
Epigénesis genética
Envejecimiento prematuro
Transducción de señal
DNA methylation
Epigenesis, genetic
Aging, premature
Signal transduction
Metilación de ADN
Progeria
Senescencia
Transducción de señales
SWR
DNA methylation
Senescence
Signal transduction
Síndrome de Wiedemann-Rauternstrauch
Trastorno metabólico neonatal
ARN Polimerasa III
Wiedemann-Rautenstrauch syndrome
Neonatal metabolic disorder
RNA Polymerase III
- Rights
- openAccess
- License
- Atribución-NoComercial 4.0 Internacional
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UNACIONAL2 |
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Universidad Nacional de Colombia |
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|
| dc.title.spa.fl_str_mv |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| dc.title.translated.eng.fl_str_mv |
Study of DNA methylation profile in patients with neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) |
| title |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| spellingShingle |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) 610 - Medicina y salud 570 - Biología::572 - Bioquímica 610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría Metilación de ADN Epigénesis genética Envejecimiento prematuro Transducción de señal DNA methylation Epigenesis, genetic Aging, premature Signal transduction Metilación de ADN Progeria Senescencia Transducción de señales SWR DNA methylation Senescence Signal transduction Síndrome de Wiedemann-Rauternstrauch Trastorno metabólico neonatal ARN Polimerasa III Wiedemann-Rautenstrauch syndrome Neonatal metabolic disorder RNA Polymerase III |
| title_short |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| title_full |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| title_fullStr |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| title_full_unstemmed |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| title_sort |
Estudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch) |
| dc.creator.fl_str_mv |
Barrera-Torres, Herman Fredy |
| dc.contributor.advisor.spa.fl_str_mv |
Arboleda Bustos, Gonzalo Humberto |
| dc.contributor.author.spa.fl_str_mv |
Barrera-Torres, Herman Fredy |
| dc.contributor.researchgroup.spa.fl_str_mv |
Muerte Celular |
| dc.subject.ddc.spa.fl_str_mv |
610 - Medicina y salud 570 - Biología::572 - Bioquímica 610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría |
| topic |
610 - Medicina y salud 570 - Biología::572 - Bioquímica 610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría Metilación de ADN Epigénesis genética Envejecimiento prematuro Transducción de señal DNA methylation Epigenesis, genetic Aging, premature Signal transduction Metilación de ADN Progeria Senescencia Transducción de señales SWR DNA methylation Senescence Signal transduction Síndrome de Wiedemann-Rauternstrauch Trastorno metabólico neonatal ARN Polimerasa III Wiedemann-Rautenstrauch syndrome Neonatal metabolic disorder RNA Polymerase III |
| dc.subject.decs.spa.fl_str_mv |
Metilación de ADN Epigénesis genética Envejecimiento prematuro Transducción de señal |
| dc.subject.decs.eng.fl_str_mv |
DNA methylation Epigenesis, genetic Aging, premature Signal transduction |
| dc.subject.proposal.spa.fl_str_mv |
Metilación de ADN Progeria Senescencia Transducción de señales SWR |
| dc.subject.proposal.eng.fl_str_mv |
DNA methylation Senescence Signal transduction |
| dc.subject.umls.spa.fl_str_mv |
Síndrome de Wiedemann-Rauternstrauch Trastorno metabólico neonatal ARN Polimerasa III |
| dc.subject.umls.eng.fl_str_mv |
Wiedemann-Rautenstrauch syndrome Neonatal metabolic disorder RNA Polymerase III |
| description |
ilustraciones (algunas a color), diagramas |
| publishDate |
2024 |
| dc.date.accessioned.none.fl_str_mv |
2024-07-17T13:49:11Z |
| dc.date.available.none.fl_str_mv |
2024-07-17T13:49:11Z |
| dc.date.issued.none.fl_str_mv |
2024-07-10 |
| dc.type.spa.fl_str_mv |
Trabajo de grado - Maestría |
| dc.type.driver.spa.fl_str_mv |
info:eu-repo/semantics/masterThesis |
| dc.type.version.spa.fl_str_mv |
info:eu-repo/semantics/acceptedVersion |
| dc.type.content.spa.fl_str_mv |
Text |
| dc.type.redcol.spa.fl_str_mv |
http://purl.org/redcol/resource_type/TM |
| status_str |
acceptedVersion |
| dc.identifier.uri.none.fl_str_mv |
https://repositorio.unal.edu.co/handle/unal/86512 |
| dc.identifier.instname.spa.fl_str_mv |
Universidad Nacional de Colombia |
| dc.identifier.reponame.spa.fl_str_mv |
Repositorio Institucional Universidad Nacional de Colombia |
| dc.identifier.repourl.spa.fl_str_mv |
https://repositorio.unal.edu.co/ |
| url |
https://repositorio.unal.edu.co/handle/unal/86512 https://repositorio.unal.edu.co/ |
| identifier_str_mv |
Universidad Nacional de Colombia Repositorio Institucional Universidad Nacional de Colombia |
| dc.language.iso.spa.fl_str_mv |
spa |
| language |
spa |
| dc.relation.references.spa.fl_str_mv |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Arboleda Bustos, Gonzalo Humberto8d01100986b4e816de54bb4d3f52f1f0Barrera-Torres, Herman Fredycf9f887a3956c4bfcb732792fa3e1801Muerte Celular2024-07-17T13:49:11Z2024-07-17T13:49:11Z2024-07-10https://repositorio.unal.edu.co/handle/unal/86512Universidad Nacional de ColombiaRepositorio Institucional Universidad Nacional de Colombiahttps://repositorio.unal.edu.co/ilustraciones (algunas a color), diagramasEl síndrome progeroide neonatal de Wiedemann-Rautenstrauch (SWR) se caracteriza por la manifestación de diversos signos de envejecimiento desde el nacimiento, con una esperanza de vida muy reducida, en promedio de 7 meses, lo que lo distingue de otros síndromes progeroides. La etiología del SWR se ha relacionado con mutaciones en el gen de la subunidad A de la ARN polimerasa III (POLR3A), crucial en la regulación de la expresión de ARN de transferencia (tARN), ARN ribosomal 5S (5SrARN), ARN nucleares pequeños (snARN) y otros, lo que resulta en una disminución de la funcionalidad del complejo ARN polimerasa III (POLR3) y alteraciones en la biogénesis ribosomal y la traducción de proteínas, entre otros procesos. La mutación puntual en el gen POLR3A tiene un impacto considerable en el perfil de metilación de ADN de regiones y genes específicos, ocasionando una expresión anómala de genes y cambios en las dinámicas moleculares. En el caso de una paciente de 6 años (POLR3A: c. 3G>T), se observa hipometilación anormal en regiones del cuerpo del gen, mientras que en una paciente de 25 años (POLR3A: c. 3772 3773 del), se observa una tendencia hacia la hipermetilación en las regiones promotoras y del cuerpo del gen. La metilación anormal de genes debido a la mutación de POLR3A incide principalmente en las proteínas de membrana plasmática, alterando procesos celulares cruciales como la transducción de señales y la transcripción de ADN codificante. Los genes significativamente metilados inducen procesos de senescencia celular. La alteración de la metilación normal en dinucleótidos CpG por el SWR provoca una aceleración o desaceleración en la determinación de la edad biológica mediante el uso de relojes epigenéticos, lo cual es característico de un síndrome progeroide. El estudio del SWR y sus implicaciones epigenéticas proporciona una oportunidad singular para comprender los procesos fisiopatológicos del envejecimiento humano. La identificación del gen y la vía metabólica asociada con este síndrome probablemente contribuirá a un nuevo conocimiento sobre la fisiopatología del envejecimiento humano, con potenciales implicaciones significativas en la investigación del envejecimiento en general. (Texto tomado de la fuente)The neonatal progeroid syndrome of Wiedemann-Rautenstrauch (SWR) is characterized by the manifestation of various aging signs from birth, with a greatly reduced life expectancy averaging 7 months, distinguishing it from other progeroid syndromes. The etiology of SWR has been linked to mutations in the gene encoding RNA polymerase III subunit A (POLR3A), crucial in the regulation of transfer RNA (tRNA), 5S ribosomal RNA (5SrRNA), small nuclear RNAs (snRNAs), and others, resulting in decreased functionality of RNA polymerase III (POLR3) complex and disruptions in ribosomal biogenesis and protein translation, among other processes. The single-point mutation in the POLR3A gene has a considerable impact on the DNA methylation profile of specific genes and regions, causing anomalous gene expression and changes in molecular dynamics. In the case of a 6-year-old patient (POLR3A: c. 3G>T), the study observed abnormal hypomethylation in the gene body regions, while in a 25-year-old patient (POLR3A: c. 3772 3773 del), a tendency toward hypermethylation in promoter and gene body regions was observed. Abnormal gene methylation due to POLR3A mutation primarily affects plasma membrane proteins, disrupting crucial cellular processes such as signal transduction and DNA transcription coding. Significantly methylated genes induce cellular senescence processes. The alteration of normal methylation in CpG dinucleotides by SWR causes acceleration or deceleration in the determination of biological age through the use of epigenetic clocks, which is characteristic of a progeroid syndrome. The study of SWR and its epigenetic implications provides a unique opportunity to understand the pathophysiological processes of human aging. The identification of the gene and the associated metabolic pathway with this syndrome will likely contribute to new knowledge of human aging pathophysiology, with potential significant implications for aging research in general. (Texto tomado de la fuente)Ministerio de Ciencia, Tecnología e Innovación Convocatoria 844-2019MaestríaMagíster en Ciencias-BioquímicaBiología del envejecimiento88 páginasapplication/pdfspaUniversidad Nacional de ColombiaBogotá - Ciencias - Maestría en Ciencias - BioquímicaFacultad de CienciasBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá610 - Medicina y salud570 - Biología::572 - Bioquímica610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatríaMetilación de ADNEpigénesis genéticaEnvejecimiento prematuroTransducción de señalDNA methylationEpigenesis, geneticAging, prematureSignal transductionMetilación de ADNProgeriaSenescenciaTransducción de señalesSWRDNA methylationSenescenceSignal transductionSíndrome de Wiedemann-RauternstrauchTrastorno metabólico neonatalARN Polimerasa IIIWiedemann-Rautenstrauch syndromeNeonatal metabolic disorderRNA Polymerase IIIEstudio del perfil de metilación de ADN en pacientes con síndrome progeroide neonatal (síndrome de Wiedemann-Rautenstrauch)Study of DNA methylation profile in patients with neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome)Trabajo de grado - Maestríainfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/acceptedVersionTexthttp://purl.org/redcol/resource_type/TMAnton, L., Brown, A. 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Experimental and Therapeutic Medicine, 21(1). https://doi.org/10.3892/ETM.2020.9479Estudio del Perfil de Metilación de ADN En Pacientes con Síndrome Progeroide Neonatal (Síndrome de Wiedemann-Rautenstrauch)Ministerio de Ciencia, Tecnología e InnovaciónInvestigadoresLICENSElicense.txtlicense.txttext/plain; charset=utf-85879https://repositorio.unal.edu.co/bitstream/unal/86512/1/license.txteb34b1cf90b7e1103fc9dfd26be24b4aMD51ORIGINAL1072657220.2024.pdf1072657220.2024.pdfTesis de Magíster en Ciencias-Bioquímicaapplication/pdf2200559https://repositorio.unal.edu.co/bitstream/unal/86512/2/1072657220.2024.pdfadeedaa5d9cdf9a4dfdde9007cccf355MD52THUMBNAIL1072657220.2024.pdf.jpg1072657220.2024.pdf.jpgGenerated Thumbnailimage/jpeg4412https://repositorio.unal.edu.co/bitstream/unal/86512/3/1072657220.2024.pdf.jpg75e2b4acc8605e3e958914ade5fcb8b3MD53unal/86512oai:repositorio.unal.edu.co:unal/865122024-07-17 23:05:48.173Repositorio Institucional Universidad Nacional de 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