Perspectiva y comprensión bioquímica del síndrome de Down
Down Syndrome (DS) is a chromosomal aberration where 21 chromosome is total or partial duplicate. DS is a common cause for mental retardation and its prevalence in general population is 1/600 to 1/1000 in live borns becoming an important resource spending cause to national public health programs. Em...
- Autores:
-
Montoya Villegas, Julio César
Satizábal Soto, José María
García Vallejo, Felipe
Sánchez Gómez, Adalberto
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2008
- Institución:
- Universidad Autónoma de Occidente
- Repositorio:
- RED: Repositorio Educativo Digital UAO
- Idioma:
- spa
- OAI Identifier:
- oai:red.uao.edu.co:10614/259
- Acceso en línea:
- http://hdl.handle.net/10614/259
- Palabra clave:
- Síndrome de Down
Hiperhomocisteinemia
Hipometilación
- Rights
- openAccess
- License
- Derechos Reservados - Universidad Autónoma de Occidente
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Perspectiva y comprensión bioquímica del síndrome de Down |
| title |
Perspectiva y comprensión bioquímica del síndrome de Down |
| spellingShingle |
Perspectiva y comprensión bioquímica del síndrome de Down Síndrome de Down Hiperhomocisteinemia Hipometilación |
| title_short |
Perspectiva y comprensión bioquímica del síndrome de Down |
| title_full |
Perspectiva y comprensión bioquímica del síndrome de Down |
| title_fullStr |
Perspectiva y comprensión bioquímica del síndrome de Down |
| title_full_unstemmed |
Perspectiva y comprensión bioquímica del síndrome de Down |
| title_sort |
Perspectiva y comprensión bioquímica del síndrome de Down |
| dc.creator.fl_str_mv |
Montoya Villegas, Julio César Satizábal Soto, José María García Vallejo, Felipe Sánchez Gómez, Adalberto |
| dc.contributor.author.spa.fl_str_mv |
Montoya Villegas, Julio César Satizábal Soto, José María García Vallejo, Felipe Sánchez Gómez, Adalberto |
| dc.subject.spa.fl_str_mv |
Síndrome de Down Hiperhomocisteinemia Hipometilación |
| topic |
Síndrome de Down Hiperhomocisteinemia Hipometilación |
| description |
Down Syndrome (DS) is a chromosomal aberration where 21 chromosome is total or partial duplicate. DS is a common cause for mental retardation and its prevalence in general population is 1/600 to 1/1000 in live borns becoming an important resource spending cause to national public health programs. Embryonary ethiology of DS is associated to non chromosomal disjunction at meiosis I on maternal gametes. However, molecular explanation for this phenomenom is not known. The only epidemiological factor accepted for DS is maternal age. Currently, several research groups have proposed metabolic errors on Folate cycle as a possible factor associated to DS specially genetic mutation on Methylene Tetrahydrofolate Reductase (MTHFR) and Mehionine Synthase Reductase (MTRR). This review shows cur¬rently literature in this topic and proposed an association between high levels of plasmatic homocysteine |
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2008 |
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2011-09-28T22:30:06Z |
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2011-09-28T22:30:06Z |
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0121-0777 |
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spa |
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El hombre y la máquina no. 30 (ene.-jun. 2008); p. 118-129 |
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Derechos Reservados - Universidad Autónoma de Occidente |
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Montoya Villegas, Julio Césare82b9cbd972b956b2c3a320793eff3fb-1Satizábal Soto, José María606cfc70cd2bba2ca94281aa71de5fe9-1García Vallejo, Felipe5695203616e72a9cff67879087ee1d6d-1Sánchez Gómez, Adalberto1f3107724e89e5074e2781839f93dbe7-1Universidad Autónoma de Occidente. Calle 25 115-85. Km 2 vía Cali-Jamundí2011-09-28T22:30:06Z2011-09-28T22:30:06Z2008-010121-0777http://hdl.handle.net/10614/259Down Syndrome (DS) is a chromosomal aberration where 21 chromosome is total or partial duplicate. DS is a common cause for mental retardation and its prevalence in general population is 1/600 to 1/1000 in live borns becoming an important resource spending cause to national public health programs. Embryonary ethiology of DS is associated to non chromosomal disjunction at meiosis I on maternal gametes. However, molecular explanation for this phenomenom is not known. The only epidemiological factor accepted for DS is maternal age. Currently, several research groups have proposed metabolic errors on Folate cycle as a possible factor associated to DS specially genetic mutation on Methylene Tetrahydrofolate Reductase (MTHFR) and Mehionine Synthase Reductase (MTRR). This review shows cur¬rently literature in this topic and proposed an association between high levels of plasmatic homocysteineEl síndrome de Down (SD) es una alteración cromosómica numérica consistente en un cromosoma 21 extra o una porción del mismo en el complemento normal de un individuo, convirtiéndose en la causa genética más común de retardo mental en humanos con una incidencia de 1/600 – 1/1.000 nacidos vivos lo que genera una gran carga para el sistema de salud y condiciona en alto grado el desarrollo y atención de estos niños. La etiología embriológica del SD es principalmente debida a la no disyunción del cromosoma 21 durante la división meiótica I materna, evento cuya naturaleza molecular no se ha aclarado plenamente. La única variable aceptada en todo el mundo relacionada con la aparición de este síndrome es la edad materna y recientemente se ha planteado que dentro de las posibles causas estudiadas están los defectos en el metabolismo del ácido fólico, principalmente los debidos a errores congénitos en los genes que codifican las enzimas mutilentetrahidrofolatorreductasa MTHFR y metionina sintetasa reductasa MTRR. La presente revisión muestra los estudios realizados en la última década, donde se observa una asociación entre concentraciones elevadas de homocisteína total en plasma e hipometilación y el incremento del riesgo de tener hijos con SD.application/pdfspaUniversidad Autónoma de OccidenteEl hombre y la máquina no. 30 (ene.-jun. 2008); p. 118-129Derechos Reservados - Universidad Autónoma de Occidentehttps://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessAtribución-NoComercial 4.0 Internacional (CC BY-NC 4.0)http://purl.org/coar/access_right/c_abf2instname:Universidad Autónoma de Occidentereponame:Repositorio Institucional UAOSíndrome de DownHiperhomocisteinemiaHipometilaciónPerspectiva y comprensión bioquímica del síndrome de DownArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTREFinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85PublicationTHUMBNAILT0003353.pdf.jpgT0003353.pdf.jpgGenerated Thumbnailimage/jpeg15686https://dspace7-uao.metacatalogo.com/bitstreams/64bfe04c-14ab-4569-a863-9ebff238c999/download2f7c467c37ffd6ce5d46a17255edb106MD54ORIGINALT0003353.pdfapplication/pdf1662108https://dspace7-uao.metacatalogo.com/bitstreams/5d9b6641-2aae-4eb4-b8ab-60e09f95e4ca/downloadd4bdf00ecf35f190fbcd4074fbe5cf90MD51LICENSElicense.txttext/plain1849https://dspace7-uao.metacatalogo.com/bitstreams/398cbe9a-c8fd-4e33-acf7-38e3f3700bb1/downloadbeff9e4288e8d815ff52efac6c2763feMD52TEXTT0003353.pdf.txtT0003353.pdf.txtExtracted texttext/plain43201https://dspace7-uao.metacatalogo.com/bitstreams/c01f4306-ce21-4337-94fa-fb2fb96fa6f5/download4658c9ac0108cc68575c428920ef62dbMD5310614/259oai:dspace7-uao.metacatalogo.com:10614/2592024-01-19 16:31:40.619https://creativecommons.org/licenses/by-nc/4.0/Derechos Reservados - Universidad Autónoma de Occidenteopen.accesshttps://dspace7-uao.metacatalogo.comRepositorio UAOrepositorio@uao.edu.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 |