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Novel amyloid precursor protein gene mutation (codon 665 Asp ) in a patient with late-onset Alzheimer's disease

dc.contributor.authorPeacock, Michael L.en_US
dc.contributor.authorMurman, D. L.en_US
dc.contributor.authorSima, Anders A. F.en_US
dc.contributor.authorWarren, James T.en_US
dc.contributor.authorRoses, Allen D.en_US
dc.contributor.authorFink, John K.en_US
dc.date.accessioned2007-04-06T18:55:07Z
dc.date.available2007-04-06T18:55:07Z
dc.date.issued1994-04en_US
dc.identifier.citationPeacock, M. L.; Murman, D. L.; Sima, A. A. F.; Warren, J. T.; Roses, A. D.; Fink, J. K. (1994)."Novel amyloid precursor protein gene mutation (codon 665 Asp ) in a patient with late-onset Alzheimer's disease." Annals of Neurology 35(4): 432-438. <http://hdl.handle.net/2027.42/50355>en_US
dc.identifier.issn0364-5134en_US
dc.identifier.issn1531-8249en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/50355
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=8154870&dopt=citationen_US
dc.description.abstractAmyloid plaques in Alzheimer's disease contain Β-amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid precursor protein may contribute to the pathogenesis of Alzheimer's disease. Until now, there has been no evidence suggesting that amyloid precursor protein mutations could be involved in late-onset or sporadic Alzheimer's disease. We used reverse transcription–polymerase chain reaction, denaturing gradient gel electrophoresis, and direct DNA sequencing to analyze amyloid precursor protein exons 16 and 17 from postmortem cerebellar samples from patients with histologically confirmed Alzheimer's disease and control subjects. We found a novel point mutation, substitution of cytosine for guanine, at nucleotide 2119 (amyloid precursor protein 770 messenger RNA transcript) in a patient with late-onset Alzheimer's disease. This substitution deletes a Bgl II site and substitutes aspartate for glutamine at codon 665. Denaturing gradient gel electrophoresis analysis showed that this mutation was absent in 40 control subjects and 127 dementia patients. Whether this mutation is a rare but normal variant or contributes to the development of Alzheimer's disease is not known. The Bgl II restriction fragment length polymorphism enables investigators to determine the frequency of this polymorphism in normal subjects and Alzheimer's disease patients.en_US
dc.format.extent702036 bytes
dc.format.extent3118 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherWiley Subscription Services, Inc., A Wiley Companyen_US
dc.subject.otherLife and Medical Sciencesen_US
dc.subject.otherNeuroscience, Neurology, and Psychiatryen_US
dc.titleNovel amyloid precursor protein gene mutation (codon 665 Asp ) in a patient with late-onset Alzheimer's diseaseen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelPsychiatryen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Neurology, the University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, the University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Pathology, the University of Michigan, Ann Arbor, MI ; Internal Medicine, the University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, the University of Michigan, Ann Arbor, MIen_US
dc.contributor.affiliationumDepartment of Neurology, the University of Michigan, Ann Arbor, MI ; Neuroscience Laboratory Building, 1103 E. Huron Street, Ann Arbor, MI 48104-1687en_US
dc.contributor.affiliationotherDivision of Neurology, Duke University Medical Center, Durham, NCen_US
dc.identifier.pmid8154870en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/50355/1/410350410_ftp.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1002/ana.410350410en_US
dc.identifier.sourceAnnals of Neurologyen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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