Presenilin-2 mutation and polymorphism in Japanese Alzheimer disease patients

• 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
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/S0009-8981(99)00033-9

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.