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- Title
Genetic Association of a Cathepsin D Polymorphism and Sporadic Creutzfeldt-Jakob Disease.
- Authors
Byung-Hoon Jeong; Kyung-Hee Lee; Yun-Jung Lee; Jisuk Yun; Young-Jae Park; Yoonsang Bae; Young-Hoon Kim; Young-Sook Cho; Eun-Kyoung Choi; Carp, Richard I.; Yong-Sun Kim
- Abstract
Background: Cathepsin D is the most abundant lysosomal and endosomal aspartyl protease; it shows beta and gamma secretase activity in vitro by cleaving the amyloid precursor protein into amyloid beta protein. In recent studies, cathepsin D was co-localized with PrPSc, the disease-associated form of the prion disease, and abnormal expression of cathepsin D correlated with tissue damage in brains of sporadic Creutzfeldt-Jakob disease (CJD). Objective: To investigate whether a polymorphism at position 224, C224T, on exon 2 of the cathepsin D gene (CTSD) is associated with sporadic CJD in the Korean population. Methods: We compared the genotype and allele frequencies at this polymorphism site in 172 sporadic CJD patients with those in 197 healthy Koreans. Results and Conclusion: Our study does not show a significant difference in genotype (p = 0.901) and allele (p = 0.509) frequencies of CTSD C224T between sporadic CJD patients and normal controls. This was the first genetic association study of CTSD in a sporadic CJD population. Copyright © 2009 S. Karger AG, Basel
- Subjects
PROTEINS; AMYLOID beta-protein; PRION diseases; GENES; CREUTZFELDT-Jakob disease
- Publication
Dementia & Geriatric Cognitive Disorders, 2009, Vol 28, Issue 4, p302
- ISSN
1420-8008
- Publication type
Article
- DOI
10.1159/000246343