Identification of PSEN1 and APP Gene Mutations in Korean Patients with Early-Onset Alzheimer's Disease.
10.3346/jkms.2008.23.2.213
- Author:
Hyun Kyung PARK
1
;
Duk Lyul NA
;
Jae Hong LEE
;
Jong Won KIM
;
Chang Seok KI
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Amyloid beta-Protein Precursor;
Alzheimer Disease;
Presenilin-1;
Presenilin-2;
Mutation
- MeSH:
Adult;
Alleles;
Alzheimer Disease/*genetics;
Amyloid/*genetics;
Apolipoproteins E/*genetics;
Female;
Humans;
Korea;
Male;
Middle Aged;
Models, Genetic;
*Mutation;
Pedigree;
Presenilin-1/*genetics;
Sequence Analysis, DNA
- From:Journal of Korean Medical Science
2008;23(2):213-217
- CountryRepublic of Korea
- Language:English
-
Abstract:
Although mutations in three genes, amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2), have been identified as genetic causes of earlyonset 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-atonset 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.
