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Synergistic Effect between the APOE ε4 Allele with Genetic Variants of GSK3B and MAPT : Differential Profile between Refractory Epilepsy and Alzheimer Disease
Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is complex and mult...
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| Published in: | International journal of molecular sciences 2024-09, Vol.25 (18), p.10228 |
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| creator | Toral-Rios, Danira Pichardo-Rojas, Pavel Ruiz-Sánchez, Elizabeth Rosas-Carrasco, Óscar Carvajal-García, Rosa Gálvez-Coutiño, Dey Carol Martínez-Rodríguez, Nancy Lucero Rubio-Chávez, Ana Daniela Alcántara-Flores, Myr López-Ramírez, Arely Martínez-Rosas, Alma Rosa Ruiz-Chow, Ángel Alberto Alonso-Vanegas, Mario Campos-Peña, Victoria |
| description | Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is complex and multifactorial. Increasing evidence indicates that Alzheimer's disease (AD) and drug-resistant TLE present common pathological features that may induce hyperexcitability, especially aberrant hyperphosphorylation of tau protein. Genetic polymorphic variants located in genes of the microtubule-associated protein tau (
) and glycogen synthase kinase-3β (
) have been associated with the risk of developing AD. The
allele is a major genetic risk factor for AD. Likewise, a gene-dose-dependent effect of
seems to influence TLE. The present study aimed to investigate whether the
allele and genetic variants located in the
and
genes are associated with the risk of developing AD and drug-resistant TLE in a cohort of the Mexican population. A significant association with the
allele was observed in patients with AD and TLE. Additional genetic interactions were identified between this allele and variants of the
and
genes. |
| doi_str_mv | 10.3390/ijms251810228 |
| format | article |
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) and glycogen synthase kinase-3β (
) have been associated with the risk of developing AD. The
allele is a major genetic risk factor for AD. Likewise, a gene-dose-dependent effect of
seems to influence TLE. The present study aimed to investigate whether the
allele and genetic variants located in the
and
genes are associated with the risk of developing AD and drug-resistant TLE in a cohort of the Mexican population. A significant association with the
allele was observed in patients with AD and TLE. Additional genetic interactions were identified between this allele and variants of the
and
genes.</description><identifier>ISSN: 1422-0067</identifier><identifier>ISSN: 1661-6596</identifier><identifier>EISSN: 1422-0067</identifier><identifier>DOI: 10.3390/ijms251810228</identifier><identifier>PMID: 39337715</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adult ; Age ; Aged ; Alleles ; Alzheimer Disease - genetics ; Alzheimer's disease ; Apolipoprotein E4 - genetics ; Apolipoproteins ; Convulsions & seizures ; Cyclin-dependent kinases ; Development and progression ; Disease ; Drug Resistant Epilepsy - drug therapy ; Drug Resistant Epilepsy - genetics ; Epilepsy ; Epilepsy, Temporal Lobe - drug therapy ; Epilepsy, Temporal Lobe - genetics ; Female ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genotype & phenotype ; Glycogen Synthase Kinase 3 beta - genetics ; Glycogen Synthase Kinase 3 beta - metabolism ; Haplotypes ; Health aspects ; Health risk assessment ; Humans ; Kinases ; Male ; Middle Aged ; Physiological aspects ; Polymorphism ; Polymorphism, Single Nucleotide ; Proteins ; Tau proteins ; tau Proteins - genetics ; tau Proteins - metabolism ; Temporal lobe epilepsy</subject><ispartof>International journal of molecular sciences, 2024-09, Vol.25 (18), p.10228</ispartof><rights>COPYRIGHT 2024 MDPI AG</rights><rights>2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2024 by the authors. 2024</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c369t-d298d9b4b1e026fd469c04e45f16f5ceec1406b8b31d55ef5d10d2a8bb777a643</cites><orcidid>0000-0002-7327-7014 ; 0000-0001-5156-6969 ; 0000-0002-0564-5882 ; 0000-0002-0804-2825 ; 0000-0002-7840-983X ; 0000-0001-8282-7543 ; 0000-0002-6562-0935</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/3110538926/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/3110538926?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,882,25734,27905,27906,36993,36994,44571,53772,53774,74875</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39337715$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Toral-Rios, Danira</creatorcontrib><creatorcontrib>Pichardo-Rojas, Pavel</creatorcontrib><creatorcontrib>Ruiz-Sánchez, Elizabeth</creatorcontrib><creatorcontrib>Rosas-Carrasco, Óscar</creatorcontrib><creatorcontrib>Carvajal-García, Rosa</creatorcontrib><creatorcontrib>Gálvez-Coutiño, Dey Carol</creatorcontrib><creatorcontrib>Martínez-Rodríguez, Nancy Lucero</creatorcontrib><creatorcontrib>Rubio-Chávez, Ana Daniela</creatorcontrib><creatorcontrib>Alcántara-Flores, Myr</creatorcontrib><creatorcontrib>López-Ramírez, Arely</creatorcontrib><creatorcontrib>Martínez-Rosas, Alma Rosa</creatorcontrib><creatorcontrib>Ruiz-Chow, Ángel Alberto</creatorcontrib><creatorcontrib>Alonso-Vanegas, Mario</creatorcontrib><creatorcontrib>Campos-Peña, Victoria</creatorcontrib><title>Synergistic Effect between the APOE ε4 Allele with Genetic Variants of GSK3B and MAPT : Differential Profile between Refractory Epilepsy and Alzheimer Disease</title><title>International journal of molecular sciences</title><addtitle>Int J Mol Sci</addtitle><description>Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is complex and multifactorial. Increasing evidence indicates that Alzheimer's disease (AD) and drug-resistant TLE present common pathological features that may induce hyperexcitability, especially aberrant hyperphosphorylation of tau protein. Genetic polymorphic variants located in genes of the microtubule-associated protein tau (
) and glycogen synthase kinase-3β (
) have been associated with the risk of developing AD. The
allele is a major genetic risk factor for AD. Likewise, a gene-dose-dependent effect of
seems to influence TLE. The present study aimed to investigate whether the
allele and genetic variants located in the
and
genes are associated with the risk of developing AD and drug-resistant TLE in a cohort of the Mexican population. A significant association with the
allele was observed in patients with AD and TLE. Additional genetic interactions were identified between this allele and variants of the
and
genes.</description><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Alleles</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer's disease</subject><subject>Apolipoprotein E4 - genetics</subject><subject>Apolipoproteins</subject><subject>Convulsions & seizures</subject><subject>Cyclin-dependent kinases</subject><subject>Development and progression</subject><subject>Disease</subject><subject>Drug Resistant Epilepsy - drug therapy</subject><subject>Drug Resistant Epilepsy - genetics</subject><subject>Epilepsy</subject><subject>Epilepsy, Temporal Lobe - drug therapy</subject><subject>Epilepsy, Temporal Lobe - genetics</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype & phenotype</subject><subject>Glycogen Synthase Kinase 3 beta - genetics</subject><subject>Glycogen Synthase Kinase 3 beta - metabolism</subject><subject>Haplotypes</subject><subject>Health aspects</subject><subject>Health risk assessment</subject><subject>Humans</subject><subject>Kinases</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Physiological aspects</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Tau proteins</subject><subject>tau Proteins - 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genetics</topic><topic>Alzheimer's disease</topic><topic>Apolipoprotein E4 - genetics</topic><topic>Apolipoproteins</topic><topic>Convulsions & seizures</topic><topic>Cyclin-dependent kinases</topic><topic>Development and progression</topic><topic>Disease</topic><topic>Drug Resistant Epilepsy - drug therapy</topic><topic>Drug Resistant Epilepsy - genetics</topic><topic>Epilepsy</topic><topic>Epilepsy, Temporal Lobe - drug therapy</topic><topic>Epilepsy, Temporal Lobe - genetics</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype & phenotype</topic><topic>Glycogen Synthase Kinase 3 beta - genetics</topic><topic>Glycogen Synthase Kinase 3 beta - metabolism</topic><topic>Haplotypes</topic><topic>Health aspects</topic><topic>Health risk assessment</topic><topic>Humans</topic><topic>Kinases</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Physiological aspects</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Tau proteins</topic><topic>tau Proteins - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>International journal of molecular sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Toral-Rios, Danira</au><au>Pichardo-Rojas, Pavel</au><au>Ruiz-Sánchez, Elizabeth</au><au>Rosas-Carrasco, Óscar</au><au>Carvajal-García, Rosa</au><au>Gálvez-Coutiño, Dey Carol</au><au>Martínez-Rodríguez, Nancy Lucero</au><au>Rubio-Chávez, Ana Daniela</au><au>Alcántara-Flores, Myr</au><au>López-Ramírez, Arely</au><au>Martínez-Rosas, Alma Rosa</au><au>Ruiz-Chow, Ángel Alberto</au><au>Alonso-Vanegas, Mario</au><au>Campos-Peña, Victoria</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Synergistic Effect between the APOE ε4 Allele with Genetic Variants of GSK3B and MAPT : Differential Profile between Refractory Epilepsy and Alzheimer Disease</atitle><jtitle>International journal of molecular sciences</jtitle><addtitle>Int J Mol Sci</addtitle><date>2024-09-23</date><risdate>2024</risdate><volume>25</volume><issue>18</issue><spage>10228</spage><pages>10228-</pages><issn>1422-0067</issn><issn>1661-6596</issn><eissn>1422-0067</eissn><abstract>Temporal Lobe Epilepsy (TLE) is a chronic neurological disorder characterized by recurrent focal seizures originating in the temporal lobe. Despite the variety of antiseizure drugs currently available to treat TLE, about 30% of cases continue to have seizures. The etiology of TLE is complex and multifactorial. Increasing evidence indicates that Alzheimer's disease (AD) and drug-resistant TLE present common pathological features that may induce hyperexcitability, especially aberrant hyperphosphorylation of tau protein. Genetic polymorphic variants located in genes of the microtubule-associated protein tau (
) and glycogen synthase kinase-3β (
) have been associated with the risk of developing AD. The
allele is a major genetic risk factor for AD. Likewise, a gene-dose-dependent effect of
seems to influence TLE. The present study aimed to investigate whether the
allele and genetic variants located in the
and
genes are associated with the risk of developing AD and drug-resistant TLE in a cohort of the Mexican population. A significant association with the
allele was observed in patients with AD and TLE. Additional genetic interactions were identified between this allele and variants of the
and
genes.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>39337715</pmid><doi>10.3390/ijms251810228</doi><orcidid>https://orcid.org/0000-0002-7327-7014</orcidid><orcidid>https://orcid.org/0000-0001-5156-6969</orcidid><orcidid>https://orcid.org/0000-0002-0564-5882</orcidid><orcidid>https://orcid.org/0000-0002-0804-2825</orcidid><orcidid>https://orcid.org/0000-0002-7840-983X</orcidid><orcidid>https://orcid.org/0000-0001-8282-7543</orcidid><orcidid>https://orcid.org/0000-0002-6562-0935</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1422-0067 |
| ispartof | International journal of molecular sciences, 2024-09, Vol.25 (18), p.10228 |
| issn | 1422-0067 1661-6596 1422-0067 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11432663 |
| source | Publicly Available Content Database; PubMed Central |
| subjects | Adult Age Aged Alleles Alzheimer Disease - genetics Alzheimer's disease Apolipoprotein E4 - genetics Apolipoproteins Convulsions & seizures Cyclin-dependent kinases Development and progression Disease Drug Resistant Epilepsy - drug therapy Drug Resistant Epilepsy - genetics Epilepsy Epilepsy, Temporal Lobe - drug therapy Epilepsy, Temporal Lobe - genetics Female Genes Genetic aspects Genetic Predisposition to Disease Genotype & phenotype Glycogen Synthase Kinase 3 beta - genetics Glycogen Synthase Kinase 3 beta - metabolism Haplotypes Health aspects Health risk assessment Humans Kinases Male Middle Aged Physiological aspects Polymorphism Polymorphism, Single Nucleotide Proteins Tau proteins tau Proteins - genetics tau Proteins - metabolism Temporal lobe epilepsy |
| title | Synergistic Effect between the APOE ε4 Allele with Genetic Variants of GSK3B and MAPT : Differential Profile between Refractory Epilepsy and Alzheimer Disease |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T23%3A14%3A43IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Synergistic%20Effect%20between%20the%20APOE%20%CE%B54%20Allele%20with%20Genetic%20Variants%20of%20GSK3B%20and%20MAPT%20:%20Differential%20Profile%20between%20Refractory%20Epilepsy%20and%20Alzheimer%20Disease&rft.jtitle=International%20journal%20of%20molecular%20sciences&rft.au=Toral-Rios,%20Danira&rft.date=2024-09-23&rft.volume=25&rft.issue=18&rft.spage=10228&rft.pages=10228-&rft.issn=1422-0067&rft.eissn=1422-0067&rft_id=info:doi/10.3390/ijms251810228&rft_dat=%3Cgale_pubme%3EA810645655%3C/gale_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c369t-d298d9b4b1e026fd469c04e45f16f5ceec1406b8b31d55ef5d10d2a8bb777a643%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=3110538926&rft_id=info:pmid/39337715&rft_galeid=A810645655&rfr_iscdi=true |