Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)

most common cause of dementia. It is a multifactorialdisease in which genetic and environmentalconditions interact to present a clinical manifestation.The e4 genotype for the apolipoprotein E(ApoE4) is a risk factor for developing AD.ApoE4 presents 15-16% of the general population,with greater prese...

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Autores principales:	Román Garita, Norbel, Boza Calvo, Carolina, Calvo Flores, Leonardo, Kozakova Valchuk, Alia, Von Storren Cortés, Adriana, Seuqeira Rojas, Luis
Formato:	Online
Idioma:	spa eng
Publicado:	Universidad de Costa Rica 2014
Acceso en línea:	https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433

id	CLINICA16433
record_format	ojs
spelling	CLINICA164332022-07-23T04:56:12Z Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment) Román Garita, Norbel Boza Calvo, Carolina Calvo Flores, Leonardo Kozakova Valchuk, Alia Von Storren Cortés, Adriana Seuqeira Rojas, Luis most common cause of dementia. It is a multifactorialdisease in which genetic and environmentalconditions interact to present a clinical manifestation.The e4 genotype for the apolipoprotein E(ApoE4) is a risk factor for developing AD.ApoE4 presents 15-16% of the general population,with greater presence in Caucasian populationsand nearly in 50% of subjects with AD.The presence of ApoE4 genotype increases the risk of developing AD 3 to 8 times higher and decreases age onset between 7 to 15 years. In homozygous form the risk increases 33 times. In late-onset AD is found in 65% of the cases and the percentage rises to 80% in presence of a family member with EA. ApoE remains the biomarker for predicting and diagnosing AD. Objective: To standardize the technique and determine the frequency of the ApoE’s 4 alleles of clinical significance in patients with mild cognitive impairment. Methods: Patients who were previously evaluated in the Memory Clinic- Hospital San Juan de Dios and diagnosed with mild cognitive impairment were selected. We collected blood samples and performed DNA extraction protocol by Miller et al. Multiplex PCR was performed in 14 patients for the simultaneous analysis of gene ApoE genotype of the samples. Results: We are testing a total of 14 patients diagnosed with mild cognitive impairment who were previously diagnosed by the interdisciplinary team to determine the presence of the ApoE gene. Conclusions: The frequency of the presence of the ApoE gene allows to describe the characteristics of the Costa Rican population as a risk factor for developing AD Universidad de Costa Rica 2014-09-01 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Article application/pdf application/pdf https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433 10.15517/rc_ucr-hsjd.v4i6.16433 Revista Clínica Escuela de Medicina UCR-HSJD; Vol. 4 No. 6 Revista Clínica Escuela de Medicina UCR-HSJD; Vol. 4 Núm. 6 2215-2741 spa eng https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433/15948 https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433/15949
institution	Universidad de Costa Rica
collection	Revista Clínica Escuela de Medicina UCR-HSJD
language	spa eng
format	Online
author	Román Garita, Norbel Boza Calvo, Carolina Calvo Flores, Leonardo Kozakova Valchuk, Alia Von Storren Cortés, Adriana Seuqeira Rojas, Luis
spellingShingle	Román Garita, Norbel Boza Calvo, Carolina Calvo Flores, Leonardo Kozakova Valchuk, Alia Von Storren Cortés, Adriana Seuqeira Rojas, Luis Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
author_facet	Román Garita, Norbel Boza Calvo, Carolina Calvo Flores, Leonardo Kozakova Valchuk, Alia Von Storren Cortés, Adriana Seuqeira Rojas, Luis
author_sort	Román Garita, Norbel
description	most common cause of dementia. It is a multifactorialdisease in which genetic and environmentalconditions interact to present a clinical manifestation.The e4 genotype for the apolipoprotein E(ApoE4) is a risk factor for developing AD.ApoE4 presents 15-16% of the general population,with greater presence in Caucasian populationsand nearly in 50% of subjects with AD.The presence of ApoE4 genotype increases the risk of developing AD 3 to 8 times higher and decreases age onset between 7 to 15 years. In homozygous form the risk increases 33 times. In late-onset AD is found in 65% of the cases and the percentage rises to 80% in presence of a family member with EA. ApoE remains the biomarker for predicting and diagnosing AD. Objective: To standardize the technique and determine the frequency of the ApoE’s 4 alleles of clinical significance in patients with mild cognitive impairment. Methods: Patients who were previously evaluated in the Memory Clinic- Hospital San Juan de Dios and diagnosed with mild cognitive impairment were selected. We collected blood samples and performed DNA extraction protocol by Miller et al. Multiplex PCR was performed in 14 patients for the simultaneous analysis of gene ApoE genotype of the samples. Results: We are testing a total of 14 patients diagnosed with mild cognitive impairment who were previously diagnosed by the interdisciplinary team to determine the presence of the ApoE gene. Conclusions: The frequency of the presence of the ApoE gene allows to describe the characteristics of the Costa Rican population as a risk factor for developing AD
title	Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
title_short	Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
title_full	Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
title_fullStr	Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
title_full_unstemmed	Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)
title_sort	determinación del gen apoe en pacientes con déficit cognitiva leve (determination of apoe gene in patients with mild cognitive impairment)
publisher	Universidad de Costa Rica
publishDate	2014
url	https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433
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Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)

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