Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type
An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyl...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 1990-06, Vol.248 (4959), p.1124-1126 |
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| creator | Levy, Efrat Carman, Mark D. Fernandez-Madrid, Ivan J. Power, Michael D. Lieberburg, Ivan van Duinen, Sjoerd G. Gerard Th. A. M. Bots Luyendijk, Willem Frangione, Blas |
| description | An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death. |
| doi_str_mv | 10.1126/science.2111584 |
| format | Article |
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The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><identifier>DOI: 10.1126/science.2111584</identifier><identifier>PMID: 2111584</identifier><identifier>CODEN: SCIEAS</identifier><language>eng</language><publisher>Washington, DC: American Society for the Advancement of Science</publisher><subject>Aged ; Aged, 80 and over ; Alleles ; Alzheimer Disease - genetics ; Alzheimer's disease ; Alzheimers disease ; Amino Acid Sequence ; Amino acids ; Amyloid - genetics ; Amyloid beta-Protein Precursor ; Amyloidosis ; Amyloidosis - complications ; Amyloidosis - genetics ; Amyloids ; Base Sequence ; Biological and medical sciences ; Brain Chemistry ; Cerebral hemorrhage ; Cerebral Hemorrhage - etiology ; Cerebral Hemorrhage - genetics ; Cerebrovascular Disorders - complications ; Cerebrovascular Disorders - genetics ; Complementary DNA ; Deoxyribonucleases, Type II Site-Specific ; DNA ; Exons ; Female ; genes ; Genes, Dominant ; Genetic aspects ; Genetic mutation ; Genomics ; haemorrhage ; Humans ; man ; Medical research ; Medical sciences ; Metabolic diseases ; Middle Aged ; Molecular Sequence Data ; Mutation ; Netherlands ; Neurological disorders ; Other metabolic disorders ; Polymerase Chain Reaction ; Protein precursors ; Protein Precursors - genetics ; Proteins</subject><ispartof>Science (American Association for the Advancement of Science), 1990-06, Vol.248 (4959), p.1124-1126</ispartof><rights>Copyright 1990 American Association for the Advancement of Science</rights><rights>1991 INIST-CNRS</rights><rights>COPYRIGHT 1990 American Association for the Advancement of Science</rights><rights>COPYRIGHT 1990 American Association for the Advancement of Science</rights><rights>Copyright American Association for the Advancement of Science Jun 1, 1990</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c767t-de8bbfcd7924d5ed54e679cf0c776b7d5baeb399599e1dc292bfb44203dfe94a3</citedby><cites>FETCH-LOGICAL-c767t-de8bbfcd7924d5ed54e679cf0c776b7d5baeb399599e1dc292bfb44203dfe94a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/2874859$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2874859$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,780,784,803,2884,2885,27924,27925,58017,58250</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19464272$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2111584$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Levy, Efrat</creatorcontrib><creatorcontrib>Carman, Mark D.</creatorcontrib><creatorcontrib>Fernandez-Madrid, Ivan J.</creatorcontrib><creatorcontrib>Power, Michael D.</creatorcontrib><creatorcontrib>Lieberburg, Ivan</creatorcontrib><creatorcontrib>van Duinen, Sjoerd G.</creatorcontrib><creatorcontrib>Gerard Th. A. M. Bots</creatorcontrib><creatorcontrib>Luyendijk, Willem</creatorcontrib><creatorcontrib>Frangione, Blas</creatorcontrib><title>Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type</title><title>Science (American Association for the Advancement of Science)</title><addtitle>Science</addtitle><description>An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alleles</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer's disease</subject><subject>Alzheimers disease</subject><subject>Amino Acid Sequence</subject><subject>Amino acids</subject><subject>Amyloid - genetics</subject><subject>Amyloid beta-Protein Precursor</subject><subject>Amyloidosis</subject><subject>Amyloidosis - complications</subject><subject>Amyloidosis - genetics</subject><subject>Amyloids</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Brain Chemistry</subject><subject>Cerebral hemorrhage</subject><subject>Cerebral Hemorrhage - etiology</subject><subject>Cerebral Hemorrhage - genetics</subject><subject>Cerebrovascular Disorders - complications</subject><subject>Cerebrovascular Disorders - genetics</subject><subject>Complementary DNA</subject><subject>Deoxyribonucleases, Type II Site-Specific</subject><subject>DNA</subject><subject>Exons</subject><subject>Female</subject><subject>genes</subject><subject>Genes, Dominant</subject><subject>Genetic aspects</subject><subject>Genetic mutation</subject><subject>Genomics</subject><subject>haemorrhage</subject><subject>Humans</subject><subject>man</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Netherlands</subject><subject>Neurological disorders</subject><subject>Other metabolic disorders</subject><subject>Polymerase Chain Reaction</subject><subject>Protein precursors</subject><subject>Protein Precursors - genetics</subject><subject>Proteins</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1990</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqN081v0zAUAPAIgUYpnLmAFE1iPWzdYufTx9JBN6nQA4MjlmO_tK6SuNiOtPLX86ZGdKAKqhwcvffz80deguA1iS4JodmVkxpaCZeUEJIWyZNgQCKWjhmN4qfBIIribFxEefo8eOHcOoowx-KT4KTng-D7p84Lr00bmir0Kwgn9c8V6AbsyIXX2oFwGGu2tdEqnEELoW7DG7CgtBd2G07xtbSixlhjrF2JJVyE152Xq_Buu4GXwbNK1A5e9eMw-Prxw930ZjxfzG6nk_lY5lnuxwqKsqykyhlNVAoqTSDLmawimedZmau0FFDGDDfPgChJGS2rMknwkKoCloh4GJzt6m6s-dGB87zRTkJdixZM53jOsHTGMoSjf8MkjinFpf5bkqQZzYr4AZ7-Bdemsy0el1MSpykjWYrofIeWogau28p4K-QSLxQvz7RQaQxPGEmKCCcNg4sDGh8FjZYH-OgPjsLDvV-Kzjl---XzsXLx7Vj5fnakLGbzx_L8kJSmrmEJHDtiunisr3ZaWuOchYpvrG6w6TiJ-EPz8775ed_NOONt_yW6sgH12-_z7_q8cFLUlRWt1G5fliVZQnOK7s3OrZ03dl-myJMC_59fsf0SZA</recordid><startdate>19900601</startdate><enddate>19900601</enddate><creator>Levy, Efrat</creator><creator>Carman, Mark D.</creator><creator>Fernandez-Madrid, Ivan J.</creator><creator>Power, Michael D.</creator><creator>Lieberburg, Ivan</creator><creator>van Duinen, Sjoerd G.</creator><creator>Gerard Th. 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A. M. Bots</au><au>Luyendijk, Willem</au><au>Frangione, Blas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type</atitle><jtitle>Science (American Association for the Advancement of Science)</jtitle><addtitle>Science</addtitle><date>1990-06-01</date><risdate>1990</risdate><volume>248</volume><issue>4959</issue><spage>1124</spage><epage>1126</epage><pages>1124-1126</pages><issn>0036-8075</issn><eissn>1095-9203</eissn><coden>SCIEAS</coden><abstract>An amyloid protein that precipitates in the cerebral vessel walls of Dutch patients with hereditary cerebral hemorrhage with amyloidosis is similar to the amyloid protein in vessel walls and senile plaques in brains of patients with Alzheimer's disease, Down syndrome, and sporadic cerebral amyloid angiopathy. Cloning and sequencing of the two exons that encode the amyloid protein from two patients with this amyloidosis revealed a cytosine-to-guanine transversion, a mutation that caused a single amino acid substitution (glutamine instead of glutamic acid) at position 22 of the amyloid protein. The mutation may account for the deposition of this amyloid protein in the cerebral vessel walls of these patients, leading to cerebral hemorrhages and premature death.</abstract><cop>Washington, DC</cop><pub>American Society for the Advancement of Science</pub><pmid>2111584</pmid><doi>10.1126/science.2111584</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1990-06, Vol.248 (4959), p.1124-1126 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79792696 |
| source | MEDLINE; Science Magazine; JSTOR Archive Collection A-Z Listing |
| subjects | Aged Aged, 80 and over Alleles Alzheimer Disease - genetics Alzheimer's disease Alzheimers disease Amino Acid Sequence Amino acids Amyloid - genetics Amyloid beta-Protein Precursor Amyloidosis Amyloidosis - complications Amyloidosis - genetics Amyloids Base Sequence Biological and medical sciences Brain Chemistry Cerebral hemorrhage Cerebral Hemorrhage - etiology Cerebral Hemorrhage - genetics Cerebrovascular Disorders - complications Cerebrovascular Disorders - genetics Complementary DNA Deoxyribonucleases, Type II Site-Specific DNA Exons Female genes Genes, Dominant Genetic aspects Genetic mutation Genomics haemorrhage Humans man Medical research Medical sciences Metabolic diseases Middle Aged Molecular Sequence Data Mutation Netherlands Neurological disorders Other metabolic disorders Polymerase Chain Reaction Protein precursors Protein Precursors - genetics Proteins |
| title | Mutation of the Alzheimer's Disease Amyloid Gene in Hereditary Cerebral Hemorrhage, Dutch Type |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-22T13%3A19%3A49IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutation%20of%20the%20Alzheimer's%20Disease%20Amyloid%20Gene%20in%20Hereditary%20Cerebral%20Hemorrhage,%20Dutch%20Type&rft.jtitle=Science%20(American%20Association%20for%20the%20Advancement%20of%20Science)&rft.au=Levy,%20Efrat&rft.date=1990-06-01&rft.volume=248&rft.issue=4959&rft.spage=1124&rft.epage=1126&rft.pages=1124-1126&rft.issn=0036-8075&rft.eissn=1095-9203&rft.coden=SCIEAS&rft_id=info:doi/10.1126/science.2111584&rft_dat=%3Cgale_proqu%3EA9148021%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=213559165&rft_id=info:pmid/2111584&rft_galeid=A9148021&rft_jstor_id=2874859&rfr_iscdi=true |