Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.
Identifieur interne : 002484 ( Ncbi/Merge ); précédent : 002483; suivant : 002485Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.
Auteurs : Lan Chu [République populaire de Chine] ; Qingqing Dai [République populaire de Chine] ; Zhu Xu [République populaire de Chine] ; Dian He [République populaire de Chine] ; Hao Wang [République populaire de Chine] ; Qingsong Wang [République populaire de Chine] ; Yifan Zhang [République populaire de Chine] ; Yingwu Zhu [République populaire de Chine] ; Yuan Li [République populaire de Chine] ; Gang Cai [République populaire de Chine] ; Krantic Slavica [France] ; Kermode Allan [Australie]Source :
- Molecular neurobiology [ 1559-1182 ] ; 2016.
Abstract
The purpose of this study was to determine whether or not aquaporin-4 (AQP4) gene mutations are related to the pathogenesis of inflammatory demyelinating diseases in the central nervous system. Polymorphisms of AQP4 exons 1-5 were determined by sequencing DNA from 67 patients with central nervous system inflammatory demyelinating diseases, including neuromyelitis optica (NMO), multiple sclerosis, recurrent or simultaneous bilateral optic neuritis, and longitudinally extensive transverse myelitis. A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P < 0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. Although it is possible that the mutations contributed to an increased risk of inflammatory central nervous system disease in these individuals, it is unlikely that mutations are a significant contributor to most patients with NMO spectrum disorders in China.
DOI: 10.1007/s12035-015-9171-9
PubMed: 25895050
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001C14
- to stream PubMed, to step Curation: 001B90
- to stream PubMed, to step Checkpoint: 001B90
Links to Exploration step
pubmed:25895050Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.</title><author><name sortKey="Chu, Lan" sort="Chu, Lan" uniqKey="Chu L" first="Lan" last="Chu">Lan Chu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China. daisyqq929@yeah.net.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Dai, Qingqing" sort="Dai, Qingqing" uniqKey="Dai Q" first="Qingqing" last="Dai">Qingqing Dai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Xu, Zhu" sort="Xu, Zhu" uniqKey="Xu Z" first="Zhu" last="Xu">Zhu Xu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="He, Dian" sort="He, Dian" uniqKey="He D" first="Dian" last="He">Dian He</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Hao" sort="Wang, Hao" uniqKey="Wang H" first="Hao" last="Wang">Hao Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Qingsong" sort="Wang, Qingsong" uniqKey="Wang Q" first="Qingsong" last="Wang">Qingsong Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Yifan" sort="Zhang, Yifan" uniqKey="Zhang Y" first="Yifan" last="Zhang">Yifan Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Zhu, Yingwu" sort="Zhu, Yingwu" uniqKey="Zhu Y" first="Yingwu" last="Zhu">Yingwu Zhu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Li, Yuan" sort="Li, Yuan" uniqKey="Li Y" first="Yuan" last="Li">Yuan Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Cai, Gang" sort="Cai, Gang" uniqKey="Cai G" first="Gang" last="Cai">Gang Cai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Slavica, Krantic" sort="Slavica, Krantic" uniqKey="Slavica K" first="Krantic" last="Slavica">Krantic Slavica</name><affiliation wicri:level="3"><nlm:affiliation>Université Pierre et Marie Currie (Paris V), Centre de, Recherche des Cordeliers (CRC), 15, Rue de l'Ecole de Médecine, 75 006, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Currie (Paris V), Centre de, Recherche des Cordeliers (CRC), 15, Rue de l'Ecole de Médecine, 75 006, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Allan, Kermode" sort="Allan, Kermode" uniqKey="Allan K" first="Kermode" last="Allan">Kermode Allan</name><affiliation wicri:level="1"><nlm:affiliation>Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, SJOG Clinic, Suite 314, 25 McCourt St Subiaco, Perth, WA, 6008, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, SJOG Clinic, Suite 314, 25 McCourt St Subiaco, Perth, WA, 6008</wicri:regionArea><wicri:noRegion>6008</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:25895050</idno><idno type="pmid">25895050</idno><idno type="doi">10.1007/s12035-015-9171-9</idno><idno type="wicri:Area/PubMed/Corpus">001C14</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001C14</idno><idno type="wicri:Area/PubMed/Curation">001B90</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001B90</idno><idno type="wicri:Area/PubMed/Checkpoint">001B90</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001B90</idno><idno type="wicri:Area/Ncbi/Merge">002484</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.</title><author><name sortKey="Chu, Lan" sort="Chu, Lan" uniqKey="Chu L" first="Lan" last="Chu">Lan Chu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China. daisyqq929@yeah.net.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Dai, Qingqing" sort="Dai, Qingqing" uniqKey="Dai Q" first="Qingqing" last="Dai">Qingqing Dai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Xu, Zhu" sort="Xu, Zhu" uniqKey="Xu Z" first="Zhu" last="Xu">Zhu Xu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="He, Dian" sort="He, Dian" uniqKey="He D" first="Dian" last="He">Dian He</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Hao" sort="Wang, Hao" uniqKey="Wang H" first="Hao" last="Wang">Hao Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Wang, Qingsong" sort="Wang, Qingsong" uniqKey="Wang Q" first="Qingsong" last="Wang">Qingsong Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Yifan" sort="Zhang, Yifan" uniqKey="Zhang Y" first="Yifan" last="Zhang">Yifan Zhang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Zhu, Yingwu" sort="Zhu, Yingwu" uniqKey="Zhu Y" first="Yingwu" last="Zhu">Yingwu Zhu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Li, Yuan" sort="Li, Yuan" uniqKey="Li Y" first="Yuan" last="Li">Yuan Li</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Cai, Gang" sort="Cai, Gang" uniqKey="Cai G" first="Gang" last="Cai">Gang Cai</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province</wicri:regionArea><wicri:noRegion>Guizhou Province</wicri:noRegion></affiliation></author><author><name sortKey="Slavica, Krantic" sort="Slavica, Krantic" uniqKey="Slavica K" first="Krantic" last="Slavica">Krantic Slavica</name><affiliation wicri:level="3"><nlm:affiliation>Université Pierre et Marie Currie (Paris V), Centre de, Recherche des Cordeliers (CRC), 15, Rue de l'Ecole de Médecine, 75 006, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Currie (Paris V), Centre de, Recherche des Cordeliers (CRC), 15, Rue de l'Ecole de Médecine, 75 006, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Allan, Kermode" sort="Allan, Kermode" uniqKey="Allan K" first="Kermode" last="Allan">Kermode Allan</name><affiliation wicri:level="1"><nlm:affiliation>Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, SJOG Clinic, Suite 314, 25 McCourt St Subiaco, Perth, WA, 6008, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, SJOG Clinic, Suite 314, 25 McCourt St Subiaco, Perth, WA, 6008</wicri:regionArea><wicri:noRegion>6008</wicri:noRegion></affiliation></author></analytic><series><title level="j">Molecular neurobiology</title><idno type="eISSN">1559-1182</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The purpose of this study was to determine whether or not aquaporin-4 (AQP4) gene mutations are related to the pathogenesis of inflammatory demyelinating diseases in the central nervous system. Polymorphisms of AQP4 exons 1-5 were determined by sequencing DNA from 67 patients with central nervous system inflammatory demyelinating diseases, including neuromyelitis optica (NMO), multiple sclerosis, recurrent or simultaneous bilateral optic neuritis, and longitudinally extensive transverse myelitis. A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P < 0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. Although it is possible that the mutations contributed to an increased risk of inflammatory central nervous system disease in these individuals, it is unlikely that mutations are a significant contributor to most patients with NMO spectrum disorders in China.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">25895050</PMID><DateCreated><Year>2016</Year><Month>06</Month><Day>11</Day></DateCreated><DateRevised><Year>2017</Year><Month>11</Month><Day>08</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1559-1182</ISSN><JournalIssue CitedMedium="Internet"><Volume>53</Volume><Issue>5</Issue><PubDate><Year>2016</Year><Month>Jul</Month></PubDate></JournalIssue><Title>Molecular neurobiology</Title><ISOAbbreviation>Mol. Neurobiol.</ISOAbbreviation></Journal><ArticleTitle>Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.</ArticleTitle><Pagination><MedlinePgn>2878-2885</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s12035-015-9171-9</ELocationID><Abstract><AbstractText>The purpose of this study was to determine whether or not aquaporin-4 (AQP4) gene mutations are related to the pathogenesis of inflammatory demyelinating diseases in the central nervous system. Polymorphisms of AQP4 exons 1-5 were determined by sequencing DNA from 67 patients with central nervous system inflammatory demyelinating diseases, including neuromyelitis optica (NMO), multiple sclerosis, recurrent or simultaneous bilateral optic neuritis, and longitudinally extensive transverse myelitis. A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P < 0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. Although it is possible that the mutations contributed to an increased risk of inflammatory central nervous system disease in these individuals, it is unlikely that mutations are a significant contributor to most patients with NMO spectrum disorders in China.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chu</LastName><ForeName>Lan</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China. daisyqq929@yeah.net.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dai</LastName><ForeName>Qingqing</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Xu</LastName><ForeName>Zhu</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>He</LastName><ForeName>Dian</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Hao</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Qingsong</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Yifan</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhu</LastName><ForeName>Yingwu</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Yuan</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cai</LastName><ForeName>Gang</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Department of Neurology, The Affiliated Hospital of Guizhou Medical University, No. 28 Guiyi Street, Yunyan District, Guiyang, 550001, Guizhou Province, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Slavica</LastName><ForeName>Krantic</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Université Pierre et Marie Currie (Paris V), Centre de, Recherche des Cordeliers (CRC), 15, Rue de l'Ecole de Médecine, 75 006, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Allan</LastName><ForeName>Kermode</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Australian Neuromuscular Research Institute, Centre for Neuromuscular and Neurological Disorders, SJOG Clinic, Suite 314, 25 McCourt St Subiaco, Perth, WA, 6008, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>04</Month><Day>18</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mol Neurobiol</MedlineTA><NlmUniqueID>8900963</NlmUniqueID><ISSNLinking>0893-7648</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Mol Neurobiol. 2016 Jul;53(5):2886</RefSource><PMID Version="1">26553348</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9</RefSource><PMID Version="1">12826609</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2011 May 6;286(18):16516-24</RefSource><PMID Version="1">21454592</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Tohoku J Exp Med. 2006 Dec;210(4):307-13</RefSource><PMID Version="1">17146196</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Exp Med. 2005 Aug 15;202(4):473-7</RefSource><PMID Version="1">16087714</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuroimmunol. 2011 Apr;233(1-2):181-4</RefSource><PMID Version="1">21130504</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochim Biophys Acta. 2008 Apr;1778(4):1181-9</RefSource><PMID Version="1">18179769</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neurol Sci. 2010 Apr 15;291(1-2):37-43</RefSource><PMID Version="1">20122699</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2006 May 23;66(10 ):1485-9</RefSource><PMID Version="1">16717206</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Ann Neurol. 2011 Feb;69(2):292-302</RefSource><PMID Version="1">21387374</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Neuroimmunol. 2013 Feb 15;255(1-2):75-80</RefSource><PMID Version="1">23116879</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2008 Jul;65(7):913-9</RefSource><PMID Version="1">18625857</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Protein Eng Des Sel. 2008 Jan;21(1):37-44</RefSource><PMID Version="1">18096555</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Bioinformatics. 2006 Nov 15;22(22):2729-34</RefSource><PMID Version="1">16895930</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Gene. 2014 Feb 25;536(2):302-7</RefSource><PMID Version="1">24361961</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Int Rev Cell Mol Biol. 2011;287:1-41</RefSource><PMID Version="1">21414585</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Mol Genet. 2008 Aug 1;17(15):2379-89</RefSource><PMID Version="1">18511455</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet Neurol. 2007 Sep;6(9):805-15</RefSource><PMID Version="1">17706564</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2011 Sep 20;77(12):1149-55</RefSource><PMID Version="1">21900637</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS One. 2013 Sep 23;8(9):e74773</RefSource><PMID Version="1">24086369</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Glia. 2009 Oct;57(13):1363-73</RefSource><PMID Version="1">19229993</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mult Scler. 2011 Jan;17(1):67-73</RefSource><PMID Version="1">20858690</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biophys J. 2011 Jun 22;100(12):2936-45</RefSource><PMID Version="1">21689527</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Arch Neurol. 2009 Aug;66(8):964-6</RefSource><PMID Version="1">19667216</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Lancet. 2004 Dec 11-17;364(9451):2106-12</RefSource><PMID Version="1">15589308</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>CNS Neurosci Ther. 2014 Jan;20(1):32-9</RefSource><PMID Version="1">23890015</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Biol Chem. 2010 Feb 12;285(7):4562-9</RefSource><PMID Version="1">20007705</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mult Scler. 2009 May;15(5):571-9</RefSource><PMID Version="1">19299434</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10908-12</RefSource><PMID Version="1">8855281</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Biochemistry. 1999 Aug 24;38(34):11156-63</RefSource><PMID Version="1">10460172</PMID></CommentsCorrections></CommentsCorrectionsList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Aquaporin-4</Keyword><Keyword MajorTopicYN="N">Inflammatory demyelinating diseases</Keyword><Keyword MajorTopicYN="N">Neuromyelitis optica</Keyword><Keyword MajorTopicYN="N">Orthogonal arrays of particles</Keyword><Keyword MajorTopicYN="N">Single nucleotide polymorphisms</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>01</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>04</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>4</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>4</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2015</Year><Month>4</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25895050</ArticleId><ArticleId IdType="doi">10.1007/s12035-015-9171-9</ArticleId><ArticleId IdType="pii">10.1007/s12035-015-9171-9</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>France</li><li>République populaire de Chine</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Chu, Lan" sort="Chu, Lan" uniqKey="Chu L" first="Lan" last="Chu">Lan Chu</name></noRegion><name sortKey="Cai, Gang" sort="Cai, Gang" uniqKey="Cai G" first="Gang" last="Cai">Gang Cai</name><name sortKey="Dai, Qingqing" sort="Dai, Qingqing" uniqKey="Dai Q" first="Qingqing" last="Dai">Qingqing Dai</name><name sortKey="He, Dian" sort="He, Dian" uniqKey="He D" first="Dian" last="He">Dian He</name><name sortKey="Li, Yuan" sort="Li, Yuan" uniqKey="Li Y" first="Yuan" last="Li">Yuan Li</name><name sortKey="Wang, Hao" sort="Wang, Hao" uniqKey="Wang H" first="Hao" last="Wang">Hao Wang</name><name sortKey="Wang, Qingsong" sort="Wang, Qingsong" uniqKey="Wang Q" first="Qingsong" last="Wang">Qingsong Wang</name><name sortKey="Xu, Zhu" sort="Xu, Zhu" uniqKey="Xu Z" first="Zhu" last="Xu">Zhu Xu</name><name sortKey="Zhang, Yifan" sort="Zhang, Yifan" uniqKey="Zhang Y" first="Yifan" last="Zhang">Yifan Zhang</name><name sortKey="Zhu, Yingwu" sort="Zhu, Yingwu" uniqKey="Zhu Y" first="Yingwu" last="Zhu">Yingwu Zhu</name></country><country name="France"><region name="Île-de-France"><name sortKey="Slavica, Krantic" sort="Slavica, Krantic" uniqKey="Slavica K" first="Krantic" last="Slavica">Krantic Slavica</name></region></country><country name="Australie"><noRegion><name sortKey="Allan, Kermode" sort="Allan, Kermode" uniqKey="Allan K" first="Kermode" last="Allan">Kermode Allan</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002484 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 002484 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:25895050
|texte= Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:25895050" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |