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1.
Maturitas ; 81(1): 17-27, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25782627

RESUMO

Albumin is the most abundant plasmatic protein. It is only produced by the liver and the full extent of its metabolic functions is not known in detail. One of the main roles assigned to albumin is as an indicator of malnutrition. There are many factors, in addition to nutrition, that influence levels of albumin in plasma. The main aim of this review is to assess the clinical significance of albumin in elderly people in the community, in hospital and in care homes. Following the review, it can be stated that age is not a cause of hypoalbuminemia. Albumin is a good marker of nutritional status in clinically stable people. Significant loss of muscle mass has been observed in elderly people with low albumin levels. Hypoalbuminemia is a mortality prognostic factor in elderly people, whether they live in the community or they are in hospital or institutionalized. Low levels of albumin are associated to worse recovery following acute pathologies. Inflammatory state and, particularly, high concentrations of IL-6 and TNF-alpha, are two of the main influencing factors of hypoalbuminemia. In elderly patients with a hip fracture, albumin levels below 38 g/L are associated to a higher risk of post-surgery complications, especially infections. Further research is needed on the impact of nutritional intervention upon albumin levels and on the outcomes in elderly people in the community, in hospital and in care.


Assuntos
Estado Nutricional , Albumina Sérica/metabolismo , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Fraturas do Quadril/sangue , Mortalidade Hospitalar , Hospitalização , Humanos , Vida Independente , Inflamação/sangue , Casas de Saúde , Prognóstico
2.
BMJ Open ; 3(9): e003200, 2013 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-24052609

RESUMO

OBJECTIVES: Examine the role of single nucleotide polymorphisms (SNPs) in the oestrogen receptor (ER) genes: rs9340799, rs2234693, rs2228480 (in the ESR1 gene) and rs4986938 (in the ESR2 gene) as a risk factor for amnesic mild cognitive impairment (MCIa) and Alzheimer's disease (AD) and its possible association with the apolipoprotein E (APOE) gene. DESIGN: We have investigated the independent and combined association of different alleles of the oestrogen receptor genes and APOE*ε4 allele with cognitive impairment using a case-control design. SETTING: Participants were prospectively recruited from the neurology departments of several Basque Country hospitals. PARTICIPANTS: This study comprised 816 Caucasian participants who were aged 50 years and older: 204 MCIa, 350 sporadic patients with AD and 262 healthy controls. PRIMARY AND SECONDARY OUTCOME MEASURES: Clinical criteria and neuropsychological tests were used to establish the diagnostic groups (MCIa, AD and healthy controls). A dichotomous variable was used for each allele and genotype and the association with MCIa and AD was established using Logistic Regression Models. RESULTS: Neither alleles nor genotypes of SNPs rs9340799, rs2234693, rs2228480 and rs4986938 of oestrogen receptor genes (ESR1 and ESR2) are independently associated with the risk of MCIa or AD. However, the genetic profile created with the combination of the less represented alleles of these SNPs (expressed as XPAA) was associated with an increased risk for MCIa (OR=3.30, 95% CI 1.28 to 8.54, p=0.014) and AD (OR=5.16, 95% CI 2.19 to 12.14, p<0.001) in women APOE*ε4 allele carriers. CONCLUSIONS: The less represented alleles of SNPs studied are associated with MCIa and AD in APOE*E4 carriers. In particular, the genetic profile created with the less represented alleles of ESR1 and ESR2 SNPs are associated with an increased risk for MCIa and AD in women APOEε4 allele carriers.

3.
Rev Esp Geriatr Gerontol ; 46 Suppl 1: 3-11, 2011 Oct.
Artigo em Espanhol | MEDLINE | ID: mdl-22152908

RESUMO

The protein family known as synucleins is composed of α-, ß- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the ß-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.


Assuntos
Doença de Alzheimer/genética , Doença por Corpos de Lewy/genética , Doenças Neurodegenerativas/genética , Doença de Parkinson/genética , alfa-Sinucleína/genética , beta-Sinucleína/genética , Idoso , Humanos , alfa-Sinucleína/fisiologia , beta-Sinucleína/fisiologia
4.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 46(supl.1): 3-11, oct. 2011. ilus, tab, graf
Artigo em Espanhol | IBECS | ID: ibc-138843

RESUMO

La familia de las proteínas conocidas como sinucleínas está compuesta por la α, la β y la γ-sinucleína. La proteína α-sinucleína es la más estudiada por su participación en procesos esenciales del sistema nervioso central. La neurotoxicidad de esta proteína está relacionada con la presencia de multiplicaciones (duplicaciones y triplicaciones) y mutaciones puntuales en la secuencia génica del gen de la α-sinucleína (SNCA), expresión diferencial de sus isoformas, así como variaciones en las modificaciones postransduccionales. Está relacionada con las inclusiones citoplasmáticas conocidas como cuerpos de Lewy y las neuritas de Lewy presentes también en las denominadas α-sinucleinopatías. En general, la proteína β-sinucleína codificada por el gen SNCB interviene como regulador de los procesos desencadenados por la α-sinucleína, viéndose alterada su función por variaciones en la secuencia génica, mientras que γ-sinucleína, codificada por el gen SNCG, parece jugar un papel transcendental en determinados procesos tumorales (AU)


The protein family known as synucleins is composed of α-, β- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the β-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes (AU)


Assuntos
Idoso , Humanos , Doença de Alzheimer/genética , Doença por Corpos de Lewy/genética , Doenças Neurodegenerativas/genética , Doença de Parkinson/genética , alfa-Sinucleína/genética , beta-Sinucleína/genética , alfa-Sinucleína/fisiologia , beta-Sinucleína/fisiologia
5.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 46(4): 217-222, jul.-ago. 2011.
Artigo em Espanhol | IBECS | ID: ibc-89871

RESUMO

Introducción. En la actualidad existen notables diferencias en el envejecimiento de los individuos de las poblaciones modernas. Mientras que algunos de ellos disfrutan de un prolongado envejecimiento saludable, otros desarrollan enfermedades neurodegenerativas como la enfermedad de Alzheimer (EA). Los factores ambientales son decisivos en este hecho, pero la genética puede contribuir a explicar las diferencias observadas. Recientemente se ha postulado que los genes de la longevidad podrían ser también neuroprotectores. Objetivos. Evaluar si determinadas variantes genéticas relacionadas con la longevidad pueden tener un carácter neuroprotector. Métodos. Los sujetos a estudio son las personas con una edad superior a 90 años. De cada participante se realizará la recogida de datos sociodemográficos, clínicos y múltiples valoraciones: cognitiva, funcional, antropométrica, nutricional, sensorial y física. Además, se realizará el análisis de 64 loci SNPs, distribuidos en 13 genes candidatos FOXO3, SIRT1, TOMM40, APOE, PICALM, COMT, CETP, CLU, CR1, IL-6, PCK-1, ZNF224 y ACE mediante Taqman array. Resultados. Obtener un mayor conocimiento sobre los alelos infra/sobre representados en las personas nonagenarias. Además, la comparación de las características genéticas de los nonagenarios con EA con aquellos libres de enfermedad permitirá observar vinculaciones entre determinados alelos con la protección o el riesgo de EA. La información asociada de los participantes permitirá crear subgrupos mostrando las interacciones entre el ambiente y las variaciones genéticas en relación al envejecimiento saludable y la EA. Conclusión. El estudio de la variabilidad genética de las personas nonagenarias nos puede dar información sobre los alelos relacionados con la longevidad y la neuroprotección(AU)


Introduction. Currently there are notable differences in the aging of individuals in modern populations. While some of them enjoy a long healthy aging, others develop neurodegenerative diseases, such as Alzheimer's disease (AD). Environmental factors are critical, but genetics could explain the differences observed. It has recently been postulated that longevity genes might also be neuroprotective. Objectives. To assess whether certain genetic variants associated with longevity might have a neuroprotective effect. Methods. The subjects of this study are people older than 90 years. We will collect sociodemographic and clinical data and multiple assessments, cognitive, functional, anthropometric, nutritional, sensory and physical each participant. In addition, 64 SNPs loci distributed in 13 candidate genes FOXO3, SIRT1, TOMM40, APOE, PICALM, COMT, CETP, CLU, CR1, IL-6, PCK-1, ZNF224 and ACE will be analysed by Taqman array. Results. It is hoped to gain more knowledge about under/over-represented alleles in nonagenarians. Furthermore, comparison of the genetic characteristics of nonagenarians with AD with those free of disease will enable links to be seen between certain alleles with protection or the risk of AD. Associated information on the participants will create subgroups showing the interactions between environment and genetic variation in relation to healthy aging and AD. Conclusion. The study of the genetic variability of nonagenarians can give us information on the alleles associated with longevity and neuroprotection(AU)


Assuntos
Humanos , Masculino , Feminino , Idoso de 80 Anos ou mais , Longevidade/genética , Doenças Neurodegenerativas/epidemiologia , Doença Ambiental/epidemiologia , Doença Ambiental/prevenção & controle , Consentimento Livre e Esclarecido/ética , Consentimento Livre e Esclarecido/legislação & jurisprudência , Projetos de Pesquisa e Desenvolvimento , Longevidade/fisiologia , Expectativa de Vida/tendências , Antropometria/métodos , Estudos Prospectivos , 28599
6.
Rev Esp Geriatr Gerontol ; 46(4): 217-22, 2011.
Artigo em Espanhol | MEDLINE | ID: mdl-21652117

RESUMO

INTRODUCTION: Currently there are notable differences in the aging of individuals in modern populations. While some of them enjoy a long healthy aging, others develop neurodegenerative diseases, such as Alzheimer's disease (AD). Environmental factors are critical, but genetics could explain the differences observed. It has recently been postulated that longevity genes might also be neuroprotective. OBJECTIVES: To assess whether certain genetic variants associated with longevity might have a neuroprotective effect. METHODS: The subjects of this study are people older than 90 years. We will collect sociodemographic and clinical data and multiple assessments, cognitive, functional, anthropometric, nutritional, sensory and physical each participant. In addition, 64 SNPs loci distributed in 13 candidate genes FOXO3, SIRT1, TOMM40, APOE, PICALM, COMT, CETP, CLU, CR1, IL-6, PCK-1, ZNF224 and ACE will be analysed by Taqman array. RESULTS: It is hoped to gain more knowledge about under/over-represented alleles in nonagenarians. Furthermore, comparison of the genetic characteristics of nonagenarians with AD with those free of disease will enable links to be seen between certain alleles with protection or the risk of AD. Associated information on the participants will create subgroups showing the interactions between environment and genetic variation in relation to healthy aging and AD. CONCLUSION: The study of the genetic variability of nonagenarians can give us information on the alleles associated with longevity and neuroprotection.


Assuntos
Envelhecimento/genética , Cognição , Longevidade/genética , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Estudos Prospectivos , Espanha
7.
Nutr. clín. diet. hosp ; 31(1): 4-14, ene.-abr. 2011. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-87593

RESUMO

Introducción El envejecimiento poblacional y el aumento de las enfermedades neurodegenerativas y vasculares hacen de la disfagia un síndrome creciente entre la población mayor, especialmente en los centros geriátricos, donde el número de demencias avanzadas es elevado. En estos pacientes resulta difícil conseguir una ingesta hídrica y energética suficiente y segura, siendo frecuentes las complicaciones de la disfagia como desnutrición, aspiración bronquial e infecciones respiratorias. La gelatina, utilizada principalmente como agua gelificada es junto a los líquidos espesados, una de las formas tradicionales de hidratación de los pacientes con disfagia. Pero, si sustituyéramos el agua por derivados lácteos podríamos mejorar tanto la hidratación como el aporte energético en esa toma. Objetivos Presentar un tipo de gelatinas preparadas con lácteos que puede ser útil como suplemento dietético en la alimentación de personas mayores institucionalizadas con disfagia. Métodos A la hora de elaborar el preparado nutricional se emplean los siguientes ingredientes: leche entera, yogur, fibra soluble y hojas de gelatina. El proceso de elaboración en la cocina de nuestro centro consiste en: 1º) Hidratación de la gelatina en agua fría; 2º Disolución con agua templada y leche; 3º) Mezcla de los yogures con la leche y la fibra. 4º) Añadir la gelatina hidratada a la mezcla anterior; homogeneizar y repartir en recipientes. 5º) Refrigeración hasta el consumo. Resultados Estos preparados son estables en el tiempo y microbiológicamente seguros para su consumo, aportando una media de 82.86 Kcal y 90.44 g de agua por cada unidad. Discusión Con el uso de lácteos gelatinizados, el profesional sanitario puede disponer de una alternativa más en el manejo de los pacientes con disfagia (AU)


Introduction The ageing of the population and the increase in neurodegenerative and vascular diseases mean that dysphagia is an increasingly common condition in the elderly, especially in those geriatric centres wich have a large number of patients with advanced dementia. It is difficult to achieve an adequate, safe liquid and energy intake in these patients and the complications of dysphagia, such as malnutrition, bronchial aspiration and respiratory infections, are frequently seen. The use of gelatine, mainly in the form of jellied water and thickened liquids, is one of the traditional forms of hydration in patients with dysphagia. However, if we were to replace the water with milk derivatives, we could both improve hydration and provide an energy source in the same intake. Objectives To introduce jellied milk products to intensify the elderly people diet with dysphagia who are in geriatrics centres. Methods Trough this study we present a jellied preparation whose ingredients are: whole milk, yoghourt, soluble fibre and commercial gelatine leaves. This is prepared in the kitchen of our centre by the following process: 1º) The gelatine is hydrated by soaking in cold water; 2º It is dissol ved in warm water with milk; 3º) The yoghourt is mixed with the milk and fibre; 4º) The hydra - ted gelatine is added to the mixture, homogenized and divided bet ween the containers; 5º) Refrigeration until it is consumed. Results These preparations are stable over time and microbiologically safe for consumption and provided 82.86 Kcal and 90.44 g of water per unit. Discussion With the use of jellied milk products, healthcare professionals have at their disposal one more alternative for the management of patients with dysphagia (AU)


Assuntos
Humanos , Idoso , Transtornos de Deglutição , Fenômenos Fisiológicos da Nutrição do Lactente , Hospitais Geriátricos , Laticínios , Gelatina/administração & dosagem
8.
9.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 44(supl.2): 29-36, nov. 2009. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-147245

RESUMO

La demencia condiciona la nutrición del paciente desde su inicio, produciendo anorexia, pérdida ponderal, apraxias para la ingesta y disfagia. Cada fase evolutiva exige estrategias diferentes que deben comenzar por la sensibilización, el conocimiento del problema y su detección temprana. En la demencia, la disfagia se presenta habitualmente en fases avanzadas y con frecuencia el paciente está institucionalizado. Tras su sospecha, hay que evaluar la tolerancia del paciente mediante el test de volumen/viscosidad, introducir estrategias ambientales y posturales en la alimentación y modificar las texturas de la dieta. Ésta es una labor compleja que exige la participación de un equipo interdisciplinario bien formado que pueda ofrecer información y alternativas, integrando al entorno familiar en el plan de cuidados. La dieta adaptada debe basarse en la alimentación tradicional, que puede combinarse con preparados comerciales y suplementos nutricionales para conseguir una dieta variada que aumente la satisfacción de pacientes, cuidadores y familia. Las sondas de alimentación no han demostrado beneficios en la alimentación de los pacientes con demencia avanzada. Por todo ello, proponemos la alimentación oral asistida como la forma más natural y adecuada en este tipo de pacientes, respetando su voluntad previamente expresada (AU)


From the onset, dementia affects the patient's nutritional status, producing anorexia, weight loss, feeding apraxia and dysphagia. Distinct strategies are required in each of the stages of this disease, starting with awareness and knowledge of the problem and its prompt detection. In dementia, dysphagia usually appears in advanced phases, when the patient is often institutionalized. When dysphagia is suspected, the patient's tolerance must be evaluated by the volume/viscosity test, environmental and postural strategies should be introduced, and the texture of the diet should be modified. This is a complex task requiring the involvement of a properly trained interdisciplinary team, able to provide information and alternatives and integrate the family environment in the patient's care. The adapted diet should be based on the traditional diet that can also be combined with artificial supplements to provide a varied diet that increases patients’, caregivers’ and relatives’ satisfaction. Tube feeding has shown no nutritional benefits in patients with advanced dementia. Therefore, we propose assisted oral feeding as the most natural and appropriate form of feeding in these patients, always respecting their previously expressed wishes (AU)


Assuntos
Humanos , Idoso , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Demência/complicações , Progressão da Doença , Métodos de Alimentação , Índice de Gravidade de Doença
10.
Rev Esp Geriatr Gerontol ; 44 Suppl 2: 29-36, 2009 Nov.
Artigo em Espanhol | MEDLINE | ID: mdl-19800150

RESUMO

From the onset, dementia affects the patient's nutritional status, producing anorexia, weight loss, feeding apraxia and dysphagia. Distinct strategies are required in each of the stages of this disease, starting with awareness and knowledge of the problem and its prompt detection. In dementia, dysphagia usually appears in advanced phases, when the patient is often institutionalized. When dysphagia is suspected, the patient's tolerance must be evaluated by the volume/viscosity test, environmental and postural strategies should be introduced, and the texture of the diet should be modified. This is a complex task requiring the involvement of a properly trained interdisciplinary team, able to provide information and alternatives and integrate the family environment in the patient's care. The adapted diet should be based on the traditional diet that can also be combined with artificial supplements to provide a varied diet that increases patients', caregivers' and relatives' satisfaction. Tube feeding has shown no nutritional benefits in patients with advanced dementia. Therefore, we propose assisted oral feeding as the most natural and appropriate form of feeding in these patients, always respecting their previously expressed wishes.


Assuntos
Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Demência/complicações , Idoso , Progressão da Doença , Métodos de Alimentação , Humanos , Índice de Gravidade de Doença
13.
Rev. esp. geriatr. gerontol. (Ed. impr.) ; 42(supl.1): 39-50, sept. 2007. tab
Artigo em Espanhol | IBECS | ID: ibc-148982

RESUMO

Las infecciones del tracto urinario (ITU) son las infecciones más comunes en el anciano y en el medio residencial. Sus formas de presentación pueden ser confusas, plantear dudas diagnósticas y predisponer al sobretratamiento. Su manejo y la prescripción de antibióticos son mejorables tomando conciencia del problema, formando al personal e implicando a todos los estamentos en la prevención, el cuidado de los pacientes y la mejora del tratamiento. Es necesario trabajar conjuntamente con el servicio de microbiología de referencia para conocer las resistencias del centro y consensuar unos criterios de diagnóstico y tratamiento. Con pautas sencillas, podemos utilizar más racionalmente los recursos terapéuticos disponibles y limitar la aparición de resistencias microbianas en la residencia (AU)


Urinary tract infections are more common in the elderly and in nursing homes. Their forms of presentation may be confusing, leading to diagnostic doubt and over-treatment. Management of these infections and antibiotic prescription could be improved by increasing awareness of the problem, providing staff with training, and involving all personnel in prevention, patient care and treatment improvement. Coordination with the reference microbiology service is required to determine resistance in each center and to establish diagnostic and treatment criteria. The use of simple protocols would aid the rational use of available therapeutic resources and limit the development of antimicrobial resistance in nursing homes (AU)


Assuntos
Humanos , Idoso , Idoso de 80 Anos ou mais , Infecções Urinárias/epidemiologia , Anti-Infecciosos Urinários/uso terapêutico , Resistência Microbiana a Medicamentos , Bacteriúria/epidemiologia , /estatística & dados numéricos , Saúde do Idoso Institucionalizado
14.
Parkinsonism Relat Disord ; 13(8): 509-15, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-17540608

RESUMO

Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.


Assuntos
Predisposição Genética para Doença , Mutação , Transtornos Parkinsonianos/genética , Proteínas Serina-Treonina Quinases/genética , Adulto , Idoso , Arginina/genética , Análise Mutacional de DNA , Saúde da Família , Feminino , Glicina/genética , Humanos , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Transtornos Parkinsonianos/epidemiologia , Serina/genética , Espanha/epidemiologia
15.
Dement Geriatr Cogn Disord ; 21(2): 81-7, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16340204

RESUMO

BACKGROUND: Late-onset Alzheimer's disease (LOAD) is associated with changes in certain proteins, such as ApoE and Cyp46A1, of the elimination route for cerebral cholesterol. The main lipoprotein involved in its transport is ApoE whose Epsilon4 allele is the least efficient. However, the presence or absence of this allele does not determine the development of LOAD, which implies the existence of other susceptibility factors associated with the disease, such as the CYP46A1 gene that encodes the enzyme cholesterol 24S-hydroxylase. OBJECTIVE: To find new data to contribute to the evaluation of whether the presence of the T allele in the polymorphic site rs754203 of the CYP46A1 gene leads to a greater risk of developing mild cognitive impairment (MCI) and LOAD. Furthermore, given the link between APOE and CYP46A1, we proceeded to relate both genotypes in each of the patient groups studied. METHODS: We studied MCI and LOAD patients and also carried out an analysis of those MCI patients who progressed from a mild cognitive deterioration to a clinically evident Alzheimer's disease during the study. RESULTS: The frequency of the CYP46A1-T allele in the LOAD patients with APOEpsilon3 alleles is significantly higher with respect to the control group; the same occurs in the group made up of LOAD patients together with the MCI patients who progressed to LOAD. The risk of developing LOAD when this allelic combination exists is 2.262 times higher (95% CI 1.337-4.202). However, having the CYP46A1-T allele does not increase the risk of suffering from LOAD in carriers of the APOEpsilon4 allele, probably because the transport of cholesterol is already affected in such patients and possibly masks the effect of the CYP46A1-T allele. CONCLUSIONS: The CYP46A1-T allele increases the risk of suffering from LOAD in persons carrying the APOEpsilon3 allele.


Assuntos
Alelos , Doença de Alzheimer/genética , Apolipoproteínas E/genética , Transtornos Cognitivos/diagnóstico , Polimorfismo de Nucleotídeo Único/genética , Esteroide Hidroxilases/genética , Idoso , Doença de Alzheimer/epidemiologia , Apolipoproteína E3 , Colesterol 24-Hidroxilase , Transtornos Cognitivos/epidemiologia , Progressão da Doença , Feminino , Expressão Gênica/genética , Frequência do Gene/genética , Humanos , Masculino , Testes Neuropsicológicos , Fatores de Risco , Índice de Gravidade de Doença
16.
Neurosci Lett ; 339(1): 85-7, 2003 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-12618306

RESUMO

Although there is considerable evidence implicating apolipoprotein E (ApoE) epsilon4 in the development of the Alzheimer's disease (AD), additional factors are also known to be involved. Thus, an association has been described between C267T polymorphism of the 5-hydroxytryptamine 6 receptor (5-HT(6)) receptor gene and AD. This case-control study analyzes the ApoE and 5-HT(6) receptor polymorphisms in 173 cases and 102 age and sex matched controls from Araba and Bizkaia (The Basque Country, Spain). The analysis of ApoE showed the frequencies of epsilon4 allele to be significantly higher in AD patients (0.292) than in the controls (0.083). When 5-HT(6) receptor polymorphism was analyzed, a greater frequency of 267C allele was observed in AD patients than in controls, though the difference was not statistically significant. Likewise regarding ApoE epsilon4 status, no statistically significant difference was observed. In conclusion, the association of ApoE epsilon4 to AD in a sample of patients from the Basque Country is confirmed, though the association to C267T polymorphism of the 5-HT(6) receptor has not been observed.


Assuntos
Doença de Alzheimer/genética , Apolipoproteínas E/genética , Receptores de Serotonina/genética , Idoso , Apolipoproteína E4 , Estudos de Casos e Controles , Humanos , Polimorfismo Genético , Espanha
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