A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimerʼs disease and leads to death as early as the age of 28 years
THE majority of early-onset familial Alzheimerʼs disease (FAD) is associated with mutations in the presenilin-1 (PS1) gene. We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293...
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| Veröffentlicht in: | Neuroreport 1998-01, Vol.9 (2), p.217-221 |
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| container_title | Neuroreport |
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| creator | Wisniewski, Thomas Dowjat, Wieslaw K Buxbaum, Joseph D Khorkova, Olga Efthimiopoulos, Spiros Kulczycki, Jerzy Lojkowska, Wanda Wegiel, Jerzy Wisniewski, H M Frangione, B |
| description | THE majority of early-onset familial Alzheimerʼs disease (FAD) is associated with mutations in the presenilin-1 (PS1) gene. We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. There was a significant increase in the amyloid β42/40 ratio in the N2a P117L PS1 transfected cells compared with N2a transfected with wild-type PS1. What role PS has in the pathogenesis of AD remains to be determined, however, the severity of the clinical picture associated with this PS1 mutation stresses the importance of presenilin. |
| doi_str_mv | 10.1097/00001756-199801260-00008 |
| format | Article |
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We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. There was a significant increase in the amyloid β42/40 ratio in the N2a P117L PS1 transfected cells compared with N2a transfected with wild-type PS1. What role PS has in the pathogenesis of AD remains to be determined, however, the severity of the clinical picture associated with this PS1 mutation stresses the importance of presenilin.</description><identifier>ISSN: 0959-4965</identifier><identifier>EISSN: 1473-558X</identifier><identifier>DOI: 10.1097/00001756-199801260-00008</identifier><identifier>PMID: 9507958</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott-Raven Publishers</publisher><subject>Adult ; Alzheimer Disease - genetics ; Alzheimer Disease - mortality ; Biological and medical sciences ; Blotting, Western ; Cells, Cultured ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DNA - analysis ; Female ; Humans ; Life Expectancy ; Male ; Medical sciences ; Membrane Proteins - genetics ; Mutation - physiology ; Neurology ; Pedigree ; Polymerase Chain Reaction ; Presenilin-1 ; Transfection - genetics</subject><ispartof>Neuroreport, 1998-01, Vol.9 (2), p.217-221</ispartof><rights>Lippincott-Raven Publishers.</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4158-8e5ee53be8062bba27d3e3b92d7313358ee4db871c5d0cb3e7f8cd270c159a543</citedby><cites>FETCH-LOGICAL-c4158-8e5ee53be8062bba27d3e3b92d7313358ee4db871c5d0cb3e7f8cd270c159a543</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2127622$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9507958$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wisniewski, Thomas</creatorcontrib><creatorcontrib>Dowjat, Wieslaw K</creatorcontrib><creatorcontrib>Buxbaum, Joseph D</creatorcontrib><creatorcontrib>Khorkova, Olga</creatorcontrib><creatorcontrib>Efthimiopoulos, Spiros</creatorcontrib><creatorcontrib>Kulczycki, Jerzy</creatorcontrib><creatorcontrib>Lojkowska, Wanda</creatorcontrib><creatorcontrib>Wegiel, Jerzy</creatorcontrib><creatorcontrib>Wisniewski, H M</creatorcontrib><creatorcontrib>Frangione, B</creatorcontrib><title>A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimerʼs disease and leads to death as early as the age of 28 years</title><title>Neuroreport</title><addtitle>Neuroreport</addtitle><description>THE majority of early-onset familial Alzheimerʼs disease (FAD) is associated with mutations in the presenilin-1 (PS1) gene. We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. There was a significant increase in the amyloid β42/40 ratio in the N2a P117L PS1 transfected cells compared with N2a transfected with wild-type PS1. What role PS has in the pathogenesis of AD remains to be determined, however, the severity of the clinical picture associated with this PS1 mutation stresses the importance of presenilin.</description><subject>Adult</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer Disease - mortality</subject><subject>Biological and medical sciences</subject><subject>Blotting, Western</subject><subject>Cells, Cultured</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DNA - analysis</subject><subject>Female</subject><subject>Humans</subject><subject>Life Expectancy</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation - physiology</subject><subject>Neurology</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Presenilin-1</subject><subject>Transfection - genetics</subject><issn>0959-4965</issn><issn>1473-558X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1998</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkk2O1DAQhSMEGnoGjoDkBULMIuCfOLaXrRF_UkvMAiR2kWNXiMGJG1cyreYUHIgTcCrSdNM7hDdlvfpe1eJVURBGXzBq1Eu6PKZkXTJjNGW8puVB0veKFauUKKXUn-4XK2qkKStTy4fFJeKXhTCU6YviwkiqjNSr4seajOkOIrlNMWBPthkQxhDDWDIyzJOdQhrJ81vG1OaaBCQWMblgJ_BkF6aedHZYaBvJOn7vIQyQf_1E4gOCRSB29CSC9UimRDzYxWCRgM1xf_hM_YJ8BpI6wjXZLzo-Kh50NiI8PtWr4uPrVx9u3pab92_e3aw3pauY1KUGCSBFC5rWvG0tV16AaA33SjAhpAaofKsVc9JT1wpQnXaeK-qYNFZW4qp4dpy7zenbDDg1Q0AHMdoR0oyNMoprxeV_QVZzpVV1mKiPoMsJMUPXbHMYbN43jDaH1Jq_qTXn1P5IerE-Oe2Y2wH82XiKaek_PfUtOhu7bEcX8IxxxlXN-YJVR2yX4gQZv8Z5B7npwcapb_51M-I3QAGvNw</recordid><startdate>19980126</startdate><enddate>19980126</enddate><creator>Wisniewski, Thomas</creator><creator>Dowjat, Wieslaw K</creator><creator>Buxbaum, Joseph D</creator><creator>Khorkova, Olga</creator><creator>Efthimiopoulos, Spiros</creator><creator>Kulczycki, Jerzy</creator><creator>Lojkowska, Wanda</creator><creator>Wegiel, Jerzy</creator><creator>Wisniewski, H M</creator><creator>Frangione, B</creator><general>Lippincott-Raven Publishers</general><general>Lippincott Williams and Wilkins</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>19980126</creationdate><title>A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimerʼs disease and leads to death as early as the age of 28 years</title><author>Wisniewski, Thomas ; Dowjat, Wieslaw K ; Buxbaum, Joseph D ; Khorkova, Olga ; Efthimiopoulos, Spiros ; Kulczycki, Jerzy ; Lojkowska, Wanda ; Wegiel, Jerzy ; Wisniewski, H M ; Frangione, B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4158-8e5ee53be8062bba27d3e3b92d7313358ee4db871c5d0cb3e7f8cd270c159a543</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1998</creationdate><topic>Adult</topic><topic>Alzheimer Disease - genetics</topic><topic>Alzheimer Disease - mortality</topic><topic>Biological and medical sciences</topic><topic>Blotting, Western</topic><topic>Cells, Cultured</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. 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We describe a novel Polish PS1 mutation of Pro117Leu, associated with the earliest average age of onset and death so far reported in a PS-linked, FAD kindred. Human kidney 293 and mouse neuroblastoma N2a cells were stably transfected with wild-type and PS1 P117L. There was a significant increase in the amyloid β42/40 ratio in the N2a P117L PS1 transfected cells compared with N2a transfected with wild-type PS1. What role PS has in the pathogenesis of AD remains to be determined, however, the severity of the clinical picture associated with this PS1 mutation stresses the importance of presenilin.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott-Raven Publishers</pub><pmid>9507958</pmid><doi>10.1097/00001756-199801260-00008</doi><tpages>5</tpages></addata></record> |
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| ispartof | Neuroreport, 1998-01, Vol.9 (2), p.217-221 |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Adult Alzheimer Disease - genetics Alzheimer Disease - mortality Biological and medical sciences Blotting, Western Cells, Cultured Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA - analysis Female Humans Life Expectancy Male Medical sciences Membrane Proteins - genetics Mutation - physiology Neurology Pedigree Polymerase Chain Reaction Presenilin-1 Transfection - genetics |
| title | A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimerʼs disease and leads to death as early as the age of 28 years |
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