title: Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.
abstract: Although mutations in three genes, amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2), have been identified as genetic causes of early-onset Alzheimer s disease (EOAD), there has been a single report on a PSEN1 mutation in Koreans. In the present study, we performed a genetic analysis of six Korean patients with EOAD. Direct sequencing analysis of the APP, PSEN1 and PSEN2 genes revealed two different mutations of the PSEN1 gene (G206S and M233T) and one mutation of the APP gene (V715M) in three patients with age-at-onset of 34, 35, and 42 yr, respectively. In addition, two patients with age-at-onset of 55 and 62 yr, respectively, were homozygous for APOE epsilon 4 allele. One woman had no genetic alterations. These findings suggest that PSEN1 and APP gene mutations may not be uncommon in Korean patients with EOAD and that genetic analysis should be provided to EOAD patients not only for the identification of their genetic causes but also for the appropriate genetic counseling.
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hyun-Kyung
authors.initials: HK
authors.lastname: Park
authors.forename: Duk Lyul
authors.initials: DL
authors.lastname: Na
authors.forename: Jae-Hong
authors.initials: JH
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000328:Adult; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D000682:Amyloid / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D010375:Pedigree; D053764:Presenilin-1 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D000682:Amyloid; D001057:Apolipoproteins E; C508853:PSEN1 protein, human; D053764:Presenilin-1