Presenilin-2 mutation and polymorphism in Japanese Alzheimer disease patients

The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. However, the genetic influence of presenilin 2 gene on sporadic Alzheimer disease remains unknown. In this study, the frequency of the mutation and genetic associ...

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Bibliographic Details
Published in:	Clinica chimica acta Vol. 283; no. 1; pp. 57 - 61
Main Authors:	Tanimukai, Hitoshi, Tsujio, Ichiro, Hashimoto, Ryota, Kudo, Takashi, Kamino, Koujin, Kamino, Koujn, Takeda, Masatoshi
Format:	Journal Article
Language:	English
Published:	Shannon Elsevier B.V 01-05-1999 Elsevier
Subjects:	Age of Onset Aged Aged, 80 and over Alzheimer disease Alzheimer Disease - genetics Apolipoprotein E4 Apolipoproteins E - genetics Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Gene Frequency Geriatrics Humans Japan Male Medical sciences Membrane Proteins - genetics Middle Aged Mutation Neurology Polymorphism, Genetic Presenilin 2 Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry RFLP Japan Presenilin 2 Alzheimer disease RFLP Human Nervous system diseases Sporadic Presenilin Genetic determinism Cerebral disorder Restriction fragment length polymorphism Central nervous system disease Genetics Degenerative disease Mutation Polymorphism
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Summary:	The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. However, the genetic influence of presenilin 2 gene on sporadic Alzheimer disease remains unknown. In this study, the frequency of the mutation and genetic association with the presenilin 2 locus were investigated in Japanese sporadic cases. The Asn141Ile mutation was not found in 88 cases of sporadic Alzheimer disease or 13 unrelated cases of familial Alzheimer disease. Fifty cases of late onset sporadic Alzheimer disease and 50 age-matched controls indicated no association with an exon 3 polymorphism of the presenilin 2 gene. These results indicate that the presenilin 2 mutation is not a major cause of Alzheimer disease.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0009-8981 1873-3492
DOI:	10.1016/S0009-8981(99)00033-9