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 multifactorial disease in which genetic and environmental conditions 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 greate...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Universidad de Costa Rica
2014-09-01
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| Series: | Revista Clínica de la Escuela de Medicina UCR-HSJD |
| Online Access: | https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433 |
| _version_ | 1817969885563584512 |
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| author | Norbel Román Garita Carolina Boza Calvo Leonardo Calvo Flores Alia Kozakova Valchuk Adriana Von Storren Cortés Luis Seuqeira Rojas |
| author_facet | Norbel Román Garita Carolina Boza Calvo Leonardo Calvo Flores Alia Kozakova Valchuk Adriana Von Storren Cortés Luis Seuqeira Rojas |
| author_sort | Norbel Román Garita |
| collection | DOAJ |
| description |
most common cause of dementia. It is a multifactorial
disease in which genetic and environmental
conditions 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 populations
and 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
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| first_indexed | 2024-04-13T20:26:55Z |
| format | Article |
| id | doaj.art-c0d7828d80094688a64ad8fd80dc8583 |
| institution | Directory Open Access Journal |
| issn | 2215-2741 |
| language | English |
| last_indexed | 2024-04-13T20:26:55Z |
| publishDate | 2014-09-01 |
| publisher | Universidad de Costa Rica |
| record_format | Article |
| series | Revista Clínica de la Escuela de Medicina UCR-HSJD |
| spelling | doaj.art-c0d7828d80094688a64ad8fd80dc85832022-12-22T02:31:18ZengUniversidad de Costa RicaRevista Clínica de la Escuela de Medicina UCR-HSJD2215-27412014-09-014610.15517/rc_ucr-hsjd.v4i6.16433Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment)Norbel Román Garita0Carolina Boza Calvo1Leonardo Calvo Flores2Alia Kozakova Valchuk3Adriana Von Storren Cortés4Luis Seuqeira Rojas5Memory and Aging Clinic. Neurology Department. Hospital San Juan de Dios.Medical School, University of Costa Rica.Centro de Investigación en Hematología y Trastornos Afines, Universidad de Costa Rica. Hospital San Juan de Dios. Medical School, University of Costa Rica.Geriatrics and Gerontology Department. Hospital San Juan de Dios. Medical School, University of Costa Rica.Geriatrics and Gerontology Department. Hospital San Juan de Dios.Medical School, University of Costa Rica most common cause of dementia. It is a multifactorial disease in which genetic and environmental conditions 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 populations and 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 https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433 |
| spellingShingle | Norbel Román Garita Carolina Boza Calvo Leonardo Calvo Flores Alia Kozakova Valchuk Adriana Von Storren Cortés Luis Seuqeira Rojas Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment) Revista Clínica de la Escuela de Medicina UCR-HSJD |
| title | 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_short | Determinación del gen ApoE en pacientes con déficit cognitiva leve (Determination of ApoE gene in patients with mild cognitive impairment) |
| title_sort | determinacion del gen apoe en pacientes con deficit cognitiva leve determination of apoe gene in patients with mild cognitive impairment |
| url | https://revistas.ucr.ac.cr/index.php/clinica/article/view/16433 |
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