Sample records for HOMOCIGOTOS (homozygotes)
from WorldWideScience.org

Sample records 1 - 13 shown.



1

Forma familiar de la enfermedad de Creutzfeldt-Jakob: marcadores genéticos en 4 familias chilenas/ Genetic markers in four Chilean families with familial Creutzfeldt-Jakob disease

Cartier R, Luis; Fernández O, Jorge; Ramírez V, Eugenio
2006-09-01

Resumen en inglés Background: Creutzfeldt-Jakob disease (CJD) is a form of transmissible spongiform encephalopathy, in which a prion protein (PrP Sc) accumulates in the brain of affected individuals. Chile has a prevalence of CJD that is more than twice than in the rest of the world and has the highest rate of familial forms. These later forms are associated with the heterozygocity of codon 200 of PrP protein gene. Aim: To search susceptibility genetic markers of CJD in members of families (mas) affected by CJD. Material and methods: A blood sample was obtained from 50 individuals pertaining to four families affected by CJD. DNA from peripheral mononuclear cells was amplified by polymerase chain reaction and sequenced for the gene that codifies PrP protein. Results: In family A, 21 of 23 members were homozygotes for codon 129 (Met/Met) and eight were simultaneously heterozygotes for codon 200 (Glu/Lys). In family B, six of nine members were homozygotes for codon 129, five were heterozygotes for codon 200 and four had both mutations. In family C, the four analyzed subjects were homozygotes for codon 129 and two were simultaneously heterozygotes for codon 200. In family D, nine of 14 members were homozygotes for codon 129 and two were simultaneously homozygotes for codon 200. No family had polymorphisms for codon 219. Conclusions: Thirty two percent of analyzed subjects were homozygotes for codon 129 and heterozygotes for codon 200, condition that defines the genetic susceptibility to acquire CJD. The dominant tendency of these genotypes could explain the higher incidence of CJF in Chile

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2

Combinación de genotipos DRD4 y DAT1 constituye importante factor de riesgo en miembros de familias de Santiago de Chile con déficit atencional/ Combination of DRD4 and DAT1 genotypes is an important risk factor for attention déficit disorder with hyperactivity families living in Santiago, Chile

Henríquez B, Hugo; Henríquez H, Marcela; Carrasco Ch, Ximena; Rothhammer A, Paula; Llop R, Elena; Aboitiz, Francisco; Rothhammer E, Francisco
2008-06-01

Resumen en inglés Background: Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurobiological disorder of childhood onset, characterized by hyperactivity, impulsiveness, and/or inattentiveness. Aún: To search forpossible associations between dopamine receptor D4 (DRD4) and dopamine transponer 1 (DATl) polymorphisms and ADHD in Chilean families. Material and methods: We extended a previous family-based discordant sib pair analysis that included 26 cases diagno (mas) sed according to DSM-IV entena and 25 controls (healthy siblings of cases), adding 14 cases and 11 controls. Results: Both loci, individually classified as homozygotes or heterozygotes for the DRD4 7-repeat and DATl 10-repeat alleles, did not exhibit genotype frequency differences between affected children and their healthy siblings. However, the simultaneous presence of both DRD4 7-repeat heterozygosity and DATl 10 allele homozygosity was significantly higher (22.5%) in cases (40), compared with (2.8%) unaffected siblings (36), with an odds-ratio of 10.16. Conclusions: The genotype combination DRD4/7 heterozygotes and DAT1/10 homozygotes is a high risk factors in Chilean families for ADHD. Increased density of dopamine transporters in ADHD brains, along with abundance of 7-repeat D4 receptors in prefrontal cortex, which is impaired in ADHD patients, make the observed gene-gene interaction worthy of studies to understand the functional basis ofADHD

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3

Caracterización molecular de alelos ABO*O del locus de grupo sanguíneo ABO en tres poblaciones chilenas/ Molecular Characterization of ABO*O Alleles at the ABO Group Locus in Three Chilean Populations

Llop R, Elena; Henríquez B, Hugo; Moraga V, Mauricio; Castro D, Mario; Rothhammer E, Francisco
2006-07-01

Resumen en inglés Background: Among the allelic variants of blood groups, the molecular characterization of ABO blood group has clinical and anthropological importance. Aim: To perform a characterization of the molecular variants of the allele ABO*O of the ABO blood group. Material and methods: Eighty four subjects of Aymara origin, living in Northern Chile, 75 individuals of Huilliche origin, living in Southern Chile and 82 subjects living in Santiago (Central Chile), were studied. All in (mas) dividuals were of group O, homozygotes for G261- deletion, that defines O¹ alleles. Mutations G188A, G261-, G542A, T646A and C771T, described for alleles O¹, O1variant and G542A were determined by PCR-RFLP (polymerase chain reaction-restriction fragment lenght polymorphism). Results: Allele O1variant has frequencies of 0.65, 0.81 and 0.6 in Aymara, Huilliche and Santiago subjects, respectively. The figures for allele O¹ are 0.35, 0.19 and 0.4, respectively and those for the allele with G542A mutation are 0.119, 0.113 and 0.079, respectively. Conclusions: These results are concordant with the reported higher frequency of allele O1variant in South American aboriginal populations. The frequencies of G542A allele in these Chilean individuals are lower than those described for Amazon aborigines

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4

La mutacion H63D del gen HFE se asocia con un riesgo aumentado de carcinoma hepatocelular/ The H63D mutation of the HFE gene is related to the risk of hepatocellular carcinoma

Ropero, P.; Briceño, O.; López Alonso, G.; G.-Agúndez, J. A.; González Fernández, F. A.; García Hoz, F.; Villegas Martínez, A.; Díaz-Rubio, M.; Ladero, J. M.
2007-07-01

Resumen en español Objetivo: comprobar si las mutaciones del gen HFE, que pueden inducir sobrecarga hepática de hierro, guardan relación con el riesgo de desarrollar carcinoma hepatocelular (CHC) en sujetos predispuestos a sufrir este tumor. Material y métodos: se han incluido 196 pacientes (161 varones) diagnosticados de CHC. Ninguno estaba diagnosticado de hemocromatosis. El grupo control estaba constituido por 181 sujetos sanos. Todos los sujetos eran españoles de raza blanca.Las mut (mas) aciones C282Y y H63D del gen HFE se identificaron mediante reacción en cadena de polimerasa (PCR) sobre ADN genómico leucocitario utilizando enzimas de restricción específicas. Resultados (casos/controles): 1. Distribución genotípica: a) mutación C282Y: 1/0 homocigotos, 12/23 heterocigotos, 183/158 normales (p = 0,07, n.s.); y b) mutación H63D: 9/5 homocigotos, 85/52 heterocigotos, 102/124 normales (odds ratio 2,00, IC95% 1,29-3,12, p = 0,002). Cuatro casos y seis controles eran heterocigotos compuestos. 2. Frecuencias alélicas: a) mutación C282Y: normales 378/339, mutados 14/23 (p = 0,11, n.s.); b) mutación H63D: normales 289/300; mutados 103/62 (odds ratio 1,72, IC95% 1,19-2,50, p = 0,004). No se observaron diferencias en relación con el sexo, la edad o la etiología (VHC, VHB, etílica o mixta) de la hepatopatía previa. Conclusiones: la mutación C282Y no guarda relación con el riesgo de desarrollar CHC en sujetos sin hemocromatosis conocida. La posesión de la mutación H63D se asocia con un riesgo aumentado de desarrollar CHC independientemente de la etiología de la hepatopatía crónica subyacente. Resumen en inglés Aim: to disclose whether mutations in the HFE gene inducing liver iron overload are related to the risk of hepatocellular carcinoma (HCC) in otherwise predisposed patients. Patients and methods: one hundred and ninety-six patients (161 males) diagnosed with HCC and 181 healthy controls were included in the study. All subjects were white Spaniards. C282Y and H63D mutations in the HFE gene were identified in leucocyte genomic DNA using a polymerase chain reaction (PCR) and (mas) specific restriction enzymes. Results (cases/controls): 1. Genotype distribution: a) C282Y mutation: homozygotes 1/0, heterozygotes 12/23, wild type 183/158 (p = 0.07, non significant); b) H63D mutation: homozygotes 9/5, heterozygotes 85/52, wild type 102/124 (0dds ratio 2.00, 95% C.I. 1.29-3.12, p = 0.002. Four cases and 6 controls were carriers of heterozygous mixed genotypes. 2. Allele frequencies: a) C282Y mutation: wild type allele 378/339, mutated allele 14/23 (p = 0.11, non significant); b) H63D mutation: wild type allele 289/300, mutated allele 103/62 (0dds ratio 1.72, 95% C.I. 1.19-2.50, p = 0.004). Age at diagnosis, gender and etiology of the underlying liver disease do not influence these findings. Conclusion: the C282Y mutation in the HFE gene is not related to the risk of HCC in non-hemochromatosis patients. The H63D mutation is associated with a higher risk of HCC in cirrhotic patients irrespective of their underlying liver disease.

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5

Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1/ HLA genetic markers and auto-antibody profile in a Mapuche family with a case affected of type 1 diabetes

Asenjo M, Sylvia; Gleisner E, Andrea; Pérez B, Francisco
2004-01-01

Resumen en inglés Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried (mas) out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50)

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6

Polimorfismo genético de interleuquina-1: Asociación con cáncer gástrico en la población de alto riesgo del Centroccidente de Venezuela/ lnterleukin-1 genetic polymorphism: Association with gastric cancer in the high-risk Central-Western population of Venezuela

Cañas, Miryan; Morán, Yeinmy; Rivero, María Belén; Bohórquez, Adolfo; Villegas, Venus; Rendón, Yanet; Ramírez, Eddy; Valderrama, Elvis; Briceño, Zuly; Chiurillo, Miguel Ángel
2009-01-01

Resumen en inglés Background: Genetic predisposition may playa role in the prevalence of gastric cancer (GC). Aim: To investígate the relationship between selected interleukin-1 (IL-1) loci polymorphisms and gastric cancer risk in the Central-Western región of Venezuela, where gastric cancer represents the first cause of cancer-related deaths. Material and methods: In a case-control study we compared the frequencies of IL-1B-511 and IL-1B+3954 biallelic polymorphism, and the pentallelic (mas) VNTR of IL-IRN in 84 gastric adenocarcinoma parafñn-embedded biopsies and 84 endoscopic biopsies from cancer-free controls. Results: No significant increase in genotypic frequencies in gastric cancer was observed for any ofthe IL-1B-511 allelic combinations. However, in a logistic regression analysis, a significant association emerged for the IL-1B+3954C carrier genotype (odds ratio (OR): 6.2; 95% confidence intervals (CI) 1.3-28.8). On the other hand, a significantly higherrisk was evidenced for the IL-IRN*2/*2genotype (OR: 7.0; 95% CI2.3-21.5). Onlypatients with a well/moderately-differentiated adenocarcinoma that were homozygotes for the E-IRN*2/*2 genotype, liad a higher risk than the complete gastric cancer group (OR: 8.1, 95% CI 2.5-26.8). Some genotype combinations among IL-1B-511, IL-1B+3954 and IL-IRN showed an increased risk for developing gastric cancer and well/moderate differentiated adenocarcinoma, that was dependent ofthe presence of IL-IRN*2/*2 genotype. Conclusions: IL-IRN*2/*2 genotype is associated with increased risk of gastric cancer in the Venezuelan population

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7

Distribución del polimorfismo del codón 72 del gen p53 en lesiones de cuello uterino

Cruz Gómez, Jhon Fredy; Quintero Vega, Militza; Fernández, Liliana; Condezo, Gabriela; Bastidas, Marco; Puig Pons, Juan
2010-03-01

Resumen en español Objetivo: Determinar la distribución del polimorfismo del codón 72 del gen p53 en pacientes que presentan lesiones cervicales asociadas a infección por VPH. Métodos: Estudio descriptivo de corte transversal donde se procesaron 118 muestras del área genital femenina, de 59 mujeres sanas (controles) y 59 con lesiones cervicales NICI-NICII-NICIII y Ca in situ (casos), para la extracción y purificación del ADN. Se amplificó el exón 4 del gen p53, para la genotipifica (mas) ción del codón 72 mediante la técnica PCR-SSCP. Ambiente: Facultad de Ciencias, Laboratorio de Biología y Medicina Experimental LABIOMEX, Universidad de Los Andes. Mérida, Estado Mérida, Venezuela. Resultados: La PCR-SSCP permitió determinar la frecuencia de los genotipos homocigotos arginina (Arg/Arg), prolina (Pro/Pro) y heterocigoto prolina/arginina (Pro/Arg). Para los casos el genotipo Arg/Arg tuvo una frecuencia de 32,20 % y para los controles de 50,85 %. El genotipo Pro/Pro se encontró en 5,09 % de los casos y 11,86 % para los controles. El genotipo Pro/Arg tuvo una distribución de 62,71 % para los casos y 37,29 % para los controles. Conclusión: En este estudio no se encontró una relación estadísticamente significativa entre la presencia del genotipo Arg/Arg y el desarrollo de lesiones cervicales. Resumen en inglés Objective: To determine the distribution of the polymorphism of the codon 72 of the gene p53 in patients that present cervical lesions associated to infection by VPH. Method: Descriptive and transversal study through assessment of 118 samples of the genital feminine area were processed, of 59 healthy (control) women and 59 with cervical lesions NICI-NICII-NICIII and Ca in situ (cases), for the extraction and purification of the DNA. The exon 4 of the gene p53 was amplifie (mas) d, for the genotipification of the codon 72 by means of technical PCR-SSCP. Setting: Facultad de Ciencias, Laboratorio de Biologia y Medicina Experimental LABIOMEX, Universidad de Los Andes. Merida, Estado Merida, Venezuela. Results: PCR-SSCP allowed determining the frequency of the homozygotes genotypes arginine (Arg/Arg), proline (Pro/Pro) and heterozygotes proline /arginine (Pro/Arg). For the cases the genotype Arg / Arg had a frequency of 32.20 % and for the controls of 50.85 %. The genotype Pro/Pro was in 5.09 % of the cases and 11.86 % for the controls. The genotype Pro/Arg had a distribution of 62.71 % for the cases and 37.29 % for the controls. Conclusion: In this investigation there was not a statistically significant relationship among the presence of the genotype Arg/Arg and the development of cervical lesions.

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8

Diferencias de sexo, edad y lípidos plasmáticos asociadas al polimorfismo de la apolipoproteína E en un grupo de escolares de Quindío, Colombia/ Gender, age and plasma lipids differences associated with apolipoprotein E polymorphism in school children

Landázuri, Patricia; Loango, Nelsy; Gallego, Martha Lucía; Restrepo, Beatriz
2009-09-01

Resumen en español Introducción. El polimorfismo de la apolipoproteína E (apoE) es un factor determinante genético de los niveles de colesterol total y colesterol LDL. Objetivo. Evaluar la relación del polimorfismo apoE con el perfil lipídico por edad y sexo en escolares quindianos de 8 a18 años. Materiales y métodos. Se utilizó la reacción en cadena de la polimerasa y enzimas de restricción para la genotipificación de apoE en 500 escolares de 8 a 18 años. Los lípidos sanguíne (mas) os se determinaron con estuches comerciales. Resultados. La frecuencia alélica fue: E3 (91,6%), E2 (5,3%) y E4 (3,1%); y la frecuencia genotípica: E3/E3 (90,8%), E2/E3 (5,6%) y E3/E4 (3,2%). No se encontraron homocigotos para E2/E2 y E4/E4. Se encontraron distribución genotípica y alélica similares para cada sexo. El genotipo apoE y el sexo tuvieron un efecto significativo sobre el colesterol total y el colesterol LDL. En niños, ambas variables se distribuyeron así: E4>E3>E2 (pE4>E2; el colesterol LDL en niños fue: E2>E4>E3; y, en niñas: E4>E2>E3. En niños, el alelo con efecto protector fue el E2, en todas las variables; mientras que, en las niñas, este alelo fue protector sólo para el colesterol total y colesterol LDL; para triacilglicéridos y colesterol VLDL y altos niveles de colesterol LDL, el efecto protector estuvo en el E4 (p Resumen en inglés Introduction. Apolipoprotein E (apoE) polymorphism is a genetic determinant of total cholesterol and LDL-c levels. Several studies have examined the relationship between variations at the APO E and cardiovascular disease. It is important to determine this relationship in the Colombian population. Objectives. The relationship of apoE polymorphisms was associated with lipid profile by age and sex. Materials and methods. A sample of 500 children aged 8 to 18 years, were sele (mas) cted from school populations in Quindio Province, Colombia. ApoE genotypes were determined by polymerase chain reaction and restriction enzyme. Lipid profiles were obtained by commercial kits. Results. The apoE allele frequencies were as follows: E3 - 91.6%, E2 - 5.3, and E4 - 3.1%. Genotypic frequencies were as follows: E3/E3 - 90.8%, E2/E3 - 5.6%, and E3/E4 - 3.2%. No homozygotes for E2/E2 and E4/E4 were recovered. Similar genotypic and allelic distribution was found for each gender. ApoE genotype and gender had a significant effect on total serum cholesterol (CT) and low density lipoprotein cholesterol (c-LDL). In boys these variables were related as follows: E4>E3>E2 (pE4>E2). High density lipoprotein cholesterol (c-HDL) levels in boys were related as follows: E2>E4>E3; for girls, E4>E2>E3. In boys, for all variables, the protector effect was in E2; but in girls this allele was only a protector for CT and c-LDL, For triacylglycerol (TAG), very low density lipoprotein cholesterol (c-VLDL) and c-HDL, this the protector effect was associated with the E4 allele, (p

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9

Prevalencia de la mutación C677T del gen de la metilentetrahidrofolato reductasa en pacientes con patología isquémica cerebrovascular aguda en la Comunidad Autónoma Aragonesa/ Prevalence of methylenetetrahydrofolate reductase C677T mutation among patients with acute ischemic cerebrovascular disease in Aragon

Sánchez-Marín, B.; Grasa, J. M.; Torres, M.; Calvo, M. T.; Martínez-Jarreta, B.; García-Erce, J. A.; Giralt, M.
2006-04-01

Resumen en español Fundamentos: La mutación C677T de la metilentetrahidrofolato reductasa (MTHFR) es la principal causa de hiperhomocisteinemia moderada en nuestro medio. La hiperhomocisteinemia es un factor reconocido de riesgo para aterotrombosis. Los pacientes con la mutación MTHFR C677T padecen hiperhomocisteinemia moderada en situaciones de carencia de folatos. Métodos: Se revisaron retrospectivamente resultados de los estudios de la mutación C677T MTHFR en pacientes con accidentes (mas) cerebrovasculares isquémicos agudos (ACVA) menores de 50 años y mayores de 50 años sin factores clásicos de riesgo vascular o historia familiar o personal sugerente de trombofilia, en un periodo de 3 años. Se realizaron estudios de la misma mutación en 90 donantes de sangre voluntarios sanos, como grupo control. Se realizó estadística descriptiva en base de datos informatizada. Resultados: Se recogieron muestras de 99 pacientes y de 90 controles. Edad media: 44,3 con desviación estándar de 13,9 años en pacientes y 39,1 con DS de 8,3 años en controles. Encontramos 19 (19,19%) homocigosis MTHFR C677T en el grupo de pacientes y 14 (15,55%) en el grupo de controles . Conclusiones: La homocigosis MTHFR C667T es más frecuente en el grupo de pacientes con ACVA que en los controles, si bien no encontramos diferencias significativas. Sin embargo, sugerimos que, dada la alta prevalencia poblacional encontrada en nuestro medio para la mutación MTHFR C677T, su estudio debe realizarse dentro de los estudios de trombofilia, pues es capaz de identificar pacientes con un factor de riesgo reversible mediante la administración de folatos. Resumen en inglés Background: Mutation C677T of the methylenetetrahydrofolate reductase (MTHFR) is the main cause of mild hyperhomocysteinemia. Hyperhomocysteinemia is a recognized risk factor for aterothrombosis. MTHFR C677T patients have higher levels of homocysteine in absence of dietary folates. Methods: Retrospective study over data from patients studied for MTHFR C677T diagnosed of ischemic stroke (IS) younger 50 or older 50 without classic vascular risk factors or with familiar or p (mas) ersonal history suggesting thrombophilia in a period of 3 years. MTHFR C677T was screened in 90 healthy blood donors as a control group. Computer database was used for descriptive statistics. Results: Blood simples from 99 patients and from 90 donors (control). Mean age: 44.3 with Standard desviation (SD) 13.9 years in IS group and 39.1 with SD 8.3 years in control group. We found 19 (19.19%) homozygotes for MTHFR C677T in IS group and 14 (15.55%) in control group. Conclusions: Homozygosis for MTHFR C667T is more frequent in the IS group than in the control one, although there is no significant differences. Anyway, we suggest that, because of the high prevalence of the mutation MTHFR C677T found, screening should be made in the thombophilia studies, so that we could find patients with a risk factor that could be lowered by folates in the diet.

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10

Enfermedad de Creutzfeldt-Jakob esporádica: estudio clínico, patológico y molecular de un caso/ Sporadic Creutzfeldt-Jakob disease: Clinical, pathological and molecular study

Villegas, Victoria Eugenia; Velandia, Fernando; Payán, Cesar
2008-12-01

Resumen en español Generalidades. Las encefalopatías espongiformes transmisibles son enfermedades neurodegenerativas ocasionadas por la acumulación anormal de una variante mal plegada de la proteína priónica, lo cual induce la formación de conglomerados proteicos resistentes a la degradación. Además, son responsables de la disfunción sináptica, daño neuronal y de la sintomatología clásica acompañante. Esta proteína de membrana es codificada por el exón 2 del gen PRNP, ubicado (mas) en el brazo corto del cromosoma 20 y parece estar involucrada en la trasmisión sináptica, la transducción de señales, la actividad antioxidante de la superoxidodismutasa, neuroplasticidad y sobrevida celular. Un polimorfismo en el codón 129 se asocia con una susceptibilidad diferencial a la enfermedad Creutzfeldt-Jakob esporádica. Objetivo. Estudio clínico, patológico y molecular de un caso de una mujer de 58 años con diagnóstico de enfermedad de Creutzfeldt- Jakob esporádica. Métodos y resultados. Se presenta el caso de una mujer en quien aparece un trastorno depresivo del afecto con demencia progresiva y sintomatología general. Al final de la enfermedad, el cuadro progresó a un déficit neurológico focalizado en el área visual. La RMN mostró hiperintensidades inespecíficas córtico-subcorticales en el núcleo estriado; en el EEG se encontró pérdida de ritmos de fondo, patrón de descargas periódicas generalizadas y complejos trifásicos; en la biopsia cerebral postmorten se evidenció pérdida severa de la población neuronal en todas las capas, vacuolas en el neuropil, en el soma neuronal y en la glía. El análisis de secuencia del gen PRNP, a partir de extracción de DNA de sangre periférica, identificó homocigosis para metionina en el codón 129. La paciente fallece a los 3 meses del inicio de la sintomatología. Conclusión. Por epidemiología, curso clínico y exámenes paraclínicos se confirma el diagnóstico de enfermedad de Creutzfeldt- Jakob esporádica. La determinación del genotipo para los polimorfismos de riesgo se convierte en una herramienta útil para complementar por medios moleculares el diagnóstico y para profundizar la comprensión de la fisiopatología de la enfermedad de Creutzfeldt-Jakob, tanto para formas esporádicas como para la nueva variante. Resumen en inglés Background: Transmissible spongiform encephalopathies are neurodegenerative diseases caused by abnormal accumulation of pathogenic isoform the prion protein, which induces the formation of conglomerates protein resistant to degradation. They are also responsible for synaptic dysfunction, neuronal damage and the classic symptoms of disease. This membrane protein is encoded by exon 2 of the gene PRNP, located on the short arm of chromosome 20 and appears to be involved in s (mas) ynaptic transmission, signal transduction, the antioxidant activity of the superoxid dismutasa, neuroplasticity and cell survival. One polymorphism at codon 129 is associated with differential susceptibility to disease sporadic Creutzfeldt-Jakob disease. Aim: Clinical, pathological and molecular report on an 58 year-old woman with pathological diagnosis of Creutzfeldt-Jakob sporadic disease. Methods and results. The clinic course appears with a behavior depressive disorder with progressive dementia and symptoms. At the end of the disease, the scenario progressed to a neurological deficit focused on the visual area. The MRI showed nonspecific hyperintensity in cortiço-subcortical nucleus in the striatum, the EEG showed patterns of recurrent generalized discharges and complex three-phase, the brain biopsy post-morten showed severe loss of the neuronal population in all the layers, vacuoles in the neuropil, in the neuronal soma and the glial. The analysis of sequence of the gene PRNP identified homozygotes for methionine at codon 129. The patient died at 3 months of the onset of symptoms. Conclusions: Epidemiology, clinical course and paraclinical examinations confirmed the diagnosis of Creutzfeldt-Jakob sporadic. The genotyping for polymorphisms of risk becomes useful tool to complement through molecular diagnosis and to deepen the understanding of the pathophysiology of Creutzfeldt- Jakob disease, both for sporadic forms and for the new variant.

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11

Mitotic recombination and genetic changes in Saccharomyces cerevisiae during wine fermentation

Puig, Sergi; Querol, Amparo; Barrio, Eladio; Pérez Ortín, José E.
2000-05-01

Digital.CSIC (Spain)

12

Genética de la enfermedad de Charcot-Marie-Tooth autosómica recesiva

Palau Martínez, Francesc; Claramunt Alonso, Reyes
2008-12-10

Digital.CSIC (Spain)

13

Association of FCGR2A and FCGR2A-FCGR3A haplotypes with susceptibility to giant cell arteritis

Morgan, Ann W.; Robinson, Jim I.; Barrett, Jennifer H.; Martín Ibáñez, Javier; Walker, Amy; Babbage, Sarah J.; Ollier, William ER; González-Gay, Miguel A.; Isaacs, John D.
2006-07-17

Digital.CSIC (Spain)