Defectos del tubo neural y gen cistationina β-sintasa
Neural tube defects and the cystathionine β-synthase gene
J.I. Gutiérrez-Revillaa,
, F. Pérez-Hernándezb, M. Tamparillasa
Autor para correspondencia
joseignaciogutierrez@redfarma.org
Correspondencia: Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. P.° Isabel La Católica, 1–3. 50009 Zaragoza. España
Correspondencia: Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. P.° Isabel La Católica, 1–3. 50009 Zaragoza. España
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"apellidos" => "Gutiérrez-Revilla" "email" => array:1 [ 0 => "joseignaciogutierrez@redfarma.org" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "F." "apellidos" => "Pérez-Hernández" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "M." "apellidos" => "Tamparillas" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. Zaragoza" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Farmacéutica de Atención Primaria. Gerencia Santander-Laredo. Santander. España" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Servicio de Bioquímica Clínica. Sección de Genética. Hospital Universitario Miguel Servet. P.<span class="elsevierStyleSup">°</span> Isabel La Católica, 1–3. 50009 Zaragoza. España" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Neural tube defects and the cystathionine β-synthase gene" ] ] "miscelanea" => "J.I. Gutierrez-Revilla, F. Perez-Hernandez y M. Tamparillas. Defectos del tubo neural y gen cistationina β-sintasa" "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2003-10-24" "fechaAceptado" => "2003-10-28" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras Clave" "identificador" => "xpalclavsec225347" "palabras" => array:5 [ 0 => "<span class="elsevierStyleItalic">Cistationina β-sintasa</span>" 1 => "Homocisteina" 2 => "Folato" 3 => "Vitamina B<span class="elsevierStyleInf">12</span>" 4 => "Folato intracelular" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key Words" "identificador" => "xpalclavsec225348" "palabras" => array:5 [ 0 => "<span class="elsevierStyleItalic">Cystathionine β-synthase</span>" 1 => "Homocysteine" 2 => "Folate" 3 => "Vitamin B<span class="elsevierStyleInf">12</span>" 4 => "Intracellular folate" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Identificar alteraciones en genes relacionados con el metabolismo del folato como el gen <span class="elsevierStyleItalic">cistationina</span> β-sintasa, con el fin de estudiar su posible implicacion en la aparicion de defectos del tubo neural.</p> <span class="elsevierStyleSectionTitle">Material y métodos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">En 27 pacientes con defectos del tubo neural, 28 madres de pacientes, 23 hermanos de pacientes sin defectos del tubo neural y 159 controles sanos, se han estudiado los polimorfismos T833C y 844ins68 dentro del gen cistationina β-sintasa y su relacion con la homocisteina.</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">La prevalencia de T833C y 844ins68 entre los grupos estudiados es la misma (p = 0,861). Tampoco se han podido establecer diferencias significativas en las concentraciones de homocisteina (p = 0,429), folato (p = 0,886), vitamina B12 (p = 0,934) y folato intraeritrocitario (p = 0,618) entre individuos homocigotos o heterocigotos para el polimorfismo T833C y 844ins68 al compararlos con individuos con genotipo normal.</p> <span class="elsevierStyleSectionTitle">Conclusiones</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">No existe una evidencia directa entre T833C y 844ins68 del gen cistationina β- sintasa y el riesgo de defectos del tubo neural, aunque es necesaria la realizacion de nuevos estudios confirmativos.</p>" ] "en" => array:2 [ "titulo" => "Summary" "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">To identify alterations in genes related with folate metabolism such as the cystathionine β-synthase (CBS) gene in order to study their possible involvement in the development of neural tube defects (NTD).</p> <span class="elsevierStyleSectionTitle">Subjects and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">The study group consisted of 27 NTD patients, 28 mothers of children with NTD, 23 siblings of patients without NTD and 159 healthy controls. The effect of one silent polymorphism (T833C) and 68-bp insertion (844ins68) of the CBS gene on plasma homocysteine (tHcy) levels was evaluated.</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">No difference was found between the groups in the prevalence of T833C and 844ins68 (p = 0.861). No significant differences were found in concentrations of tHcy (p = 0.429), folate (p = 0.886), vitamin B12 (p = 0.934) or intracellular folate (p = 0.618) between individuals who where heterozygous or homozygous for the T833C polymorphism and individuals carrying the 68-bp insertion compared with individuals with the wild type genotype.</p> <span class="elsevierStyleSectionTitle">Conclusions</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">The results of this study provide no direct evidence of a link between T833C and 844ins68 of the CBS gene and the folate-related risk of NTD, although further studies should be performed to confirm this result.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:22 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Octubre | 4 | 3 | 7 |
| 2024 Septiembre | 21 | 16 | 37 |
| 2024 Agosto | 11 | 7 | 18 |
| 2024 Julio | 10 | 13 | 23 |
| 2024 Junio | 10 | 16 | 26 |
| 2024 Mayo | 10 | 7 | 17 |
| 2024 Abril | 13 | 10 | 23 |
| 2024 Marzo | 24 | 22 | 46 |
| 2024 Febrero | 20 | 24 | 44 |
| 2024 Enero | 20 | 16 | 36 |
| 2023 Diciembre | 23 | 31 | 54 |
| 2023 Noviembre | 23 | 51 | 74 |
| 2023 Octubre | 30 | 47 | 77 |
| 2023 Septiembre | 21 | 26 | 47 |
| 2023 Agosto | 13 | 13 | 26 |
| 2023 Julio | 29 | 35 | 64 |
| 2023 Junio | 20 | 23 | 43 |
| 2023 Mayo | 22 | 6 | 28 |
| 2023 Abril | 8 | 13 | 21 |
| 2023 Marzo | 5 | 6 | 11 |
| 2023 Febrero | 12 | 4 | 16 |
| 2023 Enero | 9 | 9 | 18 |
| 2022 Diciembre | 12 | 25 | 37 |
| 2022 Noviembre | 25 | 17 | 42 |
| 2022 Octubre | 14 | 16 | 30 |
| 2022 Septiembre | 15 | 23 | 38 |
| 2022 Agosto | 18 | 19 | 37 |
| 2022 Julio | 9 | 18 | 27 |
| 2022 Junio | 16 | 17 | 33 |
| 2022 Mayo | 14 | 15 | 29 |
| 2022 Abril | 31 | 19 | 50 |
| 2022 Marzo | 16 | 17 | 33 |
| 2022 Febrero | 14 | 12 | 26 |
| 2022 Enero | 4 | 7 | 11 |
| 2021 Diciembre | 12 | 8 | 20 |
| 2021 Noviembre | 12 | 9 | 21 |
| 2021 Octubre | 9 | 16 | 25 |
| 2021 Septiembre | 9 | 6 | 15 |
| 2021 Agosto | 14 | 8 | 22 |
| 2021 Julio | 11 | 10 | 21 |
| 2021 Junio | 9 | 14 | 23 |
| 2021 Mayo | 10 | 10 | 20 |
| 2021 Abril | 35 | 14 | 49 |
| 2021 Marzo | 19 | 6 | 25 |
| 2021 Febrero | 15 | 4 | 19 |
| 2021 Enero | 12 | 12 | 24 |
| 2020 Diciembre | 11 | 7 | 18 |
| 2020 Noviembre | 18 | 13 | 31 |
| 2020 Octubre | 15 | 5 | 20 |
| 2020 Septiembre | 19 | 5 | 24 |
| 2020 Agosto | 12 | 7 | 19 |
| 2020 Julio | 4 | 2 | 6 |
| 2020 Junio | 7 | 3 | 10 |
| 2020 Mayo | 5 | 9 | 14 |
| 2020 Abril | 6 | 3 | 9 |
| 2020 Marzo | 10 | 8 | 18 |
| 2020 Febrero | 8 | 6 | 14 |
| 2020 Enero | 9 | 9 | 18 |
| 2019 Diciembre | 30 | 14 | 44 |
| 2019 Noviembre | 7 | 14 | 21 |
| 2019 Octubre | 2 | 2 | 4 |
| 2017 Octubre | 5 | 0 | 5 |
| 2017 Septiembre | 10 | 2 | 12 |
| 2017 Agosto | 16 | 0 | 16 |
| 2017 Julio | 7 | 0 | 7 |
| 2017 Junio | 20 | 8 | 28 |
| 2017 Mayo | 16 | 2 | 18 |
| 2017 Abril | 20 | 12 | 32 |
| 2017 Marzo | 17 | 12 | 29 |
| 2017 Febrero | 14 | 1 | 15 |
| 2017 Enero | 13 | 0 | 13 |
| 2016 Diciembre | 27 | 6 | 33 |
| 2016 Noviembre | 27 | 4 | 31 |
| 2016 Octubre | 43 | 7 | 50 |
| 2016 Septiembre | 19 | 5 | 24 |
| 2016 Agosto | 10 | 3 | 13 |
| 2016 Julio | 11 | 3 | 14 |
| 2016 Junio | 17 | 6 | 23 |
| 2016 Mayo | 30 | 5 | 35 |
| 2016 Abril | 18 | 5 | 23 |
| 2016 Marzo | 15 | 3 | 18 |
| 2016 Febrero | 14 | 3 | 17 |
| 2016 Enero | 16 | 6 | 22 |
| 2015 Diciembre | 14 | 5 | 19 |
| 2015 Noviembre | 22 | 1 | 23 |
| 2015 Octubre | 27 | 6 | 33 |
| 2015 Septiembre | 25 | 6 | 31 |
| 2015 Agosto | 10 | 3 | 13 |
| 2015 Julio | 9 | 5 | 14 |
| 2015 Junio | 20 | 6 | 26 |
| 2015 Mayo | 10 | 7 | 17 |
| 2015 Abril | 10 | 8 | 18 |
| 2015 Marzo | 9 | 7 | 16 |
| 2015 Febrero | 25 | 6 | 31 |
| 2015 Enero | 34 | 10 | 44 |
| 2014 Diciembre | 48 | 22 | 70 |
| 2014 Noviembre | 34 | 7 | 41 |
| 2014 Octubre | 35 | 12 | 47 |
| 2014 Septiembre | 39 | 5 | 44 |
| 2014 Agosto | 36 | 12 | 48 |
| 2014 Julio | 39 | 10 | 49 |
| 2014 Junio | 53 | 12 | 65 |
| 2014 Mayo | 42 | 6 | 48 |
| 2014 Abril | 27 | 7 | 34 |
| 2014 Marzo | 29 | 9 | 38 |
| 2014 Febrero | 30 | 8 | 38 |
| 2014 Enero | 26 | 4 | 30 |
| 2013 Diciembre | 23 | 6 | 29 |
| 2013 Noviembre | 26 | 8 | 34 |
| 2013 Octubre | 25 | 2 | 27 |
| 2013 Septiembre | 13 | 4 | 17 |
| 2013 Agosto | 32 | 4 | 36 |
| 2013 Julio | 22 | 0 | 22 |
| 2003 Noviembre | 741 | 0 | 741 |
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